MDDGB1
MCID: MSC048
MIFTS: 33

Muscular Dystrophy-Dystroglycanopathy , Type B, 1 (MDDGB1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 1 57 72 13 6 70
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B1 29 6
Mddgb1 57 72
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B1 72
Muscular Dystrophy, Congenital, Pomt1-Related 57
Muscular Dystrophy Congenital Pomt1-Related 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one patient with normal cognition has been reported


HPO:

31
muscular dystrophy-dystroglycanopathy , type b, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

OMIM® : 57 Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without impaired intellectual development (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, 609308). (613155) (Updated 20-May-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 1, also known as congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b1, is related to muscular dystrophy-dystroglycanopathy , type b, 5 and muscular dystrophy-dystroglycanopathy , type b, 6, and has symptoms including facial paresis An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 1 is POMT1 (Protein O-Mannosyltransferase 1). Affiliated tissues include eye and brain, and related phenotypes are myopia and cardiomyopathy

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 Muscular Dystrophy-Dystroglycanopathy , Type a, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 Muscular Dystrophy-Dystroglycanopathy , Type C, 8
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 Congenital Muscular Dystrophy-Dystroglycanopathy Type a
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 Congenital Muscular Dystrophy-Dystroglycanopathy A14
Congenital Muscular Dystrophy-Dystroglycanopathy A7 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 7, show less)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type b, 5 10.9
2 muscular dystrophy-dystroglycanopathy , type b, 6 10.9
3 muscular dystrophy-dystroglycanopathy , type c, 1 10.9
4 muscular dystrophy-dystroglycanopathy , type b, 3 10.9
5 muscular dystrophy-dystroglycanopathy , type b, 4 10.9
6 muscular dystrophy-dystroglycanopathy , type b, 2 10.9
7 muscular dystrophy-dystroglycanopathy , type b, 14 10.9

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type B, 1

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

31 (showing 20, show less)
# Description HPO Frequency HPO Source Accession
1 myopia 31 occasional (7.5%) HP:0000545
2 cardiomyopathy 31 occasional (7.5%) HP:0001638
3 retinal dystrophy 31 occasional (7.5%) HP:0000556
4 developmental cataract 31 occasional (7.5%) HP:0000519
5 facial palsy 31 HP:0010628
6 macroglossia 31 HP:0000158
7 global developmental delay 31 HP:0001263
8 microcephaly 31 HP:0000252
9 flexion contracture 31 HP:0001371
10 intellectual disability, severe 31 HP:0010864
11 absent speech 31 HP:0001344
12 elevated serum creatine kinase 31 HP:0003236
13 cerebellar hypoplasia 31 HP:0001321
14 hypoplasia of the corpus callosum 31 HP:0002079
15 muscular dystrophy 31 HP:0003560
16 congenital muscular dystrophy 31 HP:0003741
17 inability to walk 31 HP:0002540
18 enlarged cisterna magna 31 HP:0002280
19 cerebellar dysplasia 31 HP:0007033
20 abnormal left ventricular function 31 HP:0005162

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Mouth:
macroglossia

Neurologic Central Nervous System:
cerebellar hypoplasia
enlarged cisterna magna
cerebellar dysplasia
mental retardation, severe
delayed psychomotor development
more
Skeletal:
joint contractures

Head And Neck Face:
facial weakness

Cardiovascular Heart:
cardiomyopathy (reported in 1 patient)
left ventricular dysfunction (reported in 1 patient)

Head And Neck Head:
microcephaly

Muscle Soft Tissue:
inability to walk
muscle biopsy shows dystrophic changes
hypotonia at birth
muscle pseudohypertrophy
decreased glycosylation of alpha-dystroglycan (dag1, )

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Eyes:
retinal dystrophy (reported in 1 patient)
myopia (less common)
congenital cataracts (reported in 1 patient)

Clinical features from OMIM®:

613155 (Updated 20-May-2021)

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:


facial paresis

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B1 29 POMT1

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

40
Eye, Brain

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

(showing 22, show less)
# Title Authors PMID Year
1
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. 6 57
22549409 2012
2
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6 57
19299310 2009
3
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 57 6
17878207 2007
4
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. 57 6
16575835 2006
5
Expanding the clinical spectrum of POMT1 phenotype. 6 57
16717220 2006
6
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome. 6 57
11053679 2000
7
Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation. 6
27193224 2016
8
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome. 6
28116189 2016
9
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. 6
24491487 2014
10
Detection limit of intragenic deletions with targeted array comparative genomic hybridization. 6
24304607 2013
11
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. 6
22522420 2012
12
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 6
22323514 2012
13
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies. 6
20816175 2010
14
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. 6
18752264 2008
15
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. 6
17869517 2008
16
Molecular heterogeneity in fetal forms of type II lissencephaly. 6
17559086 2007
17
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. 57
15792865 2005
18
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. 6
15637732 2005
19
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. 6
12369018 2002
20
Unusual laminin alpha2 processing in myoblasts from a patient with a novel variant of congenital muscular dystrophy. 57
11062006 2000
21
Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings. 57
9631397 1998
22
Merosin positive congenital muscular dystrophy with severe involvement of the central nervous system. 57
8879654 1996

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

6 (showing 239, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POMT1 POMT1, ARG541TER Variation Pathogenic 3248 GRCh37:
GRCh38:
2 POMT1 POMT1, GLN590HIS Variation Pathogenic 3249 GRCh37:
GRCh38:
3 POMT1 NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys) SNV Pathogenic 3242 rs119462984 GRCh37: 9:134395562-134395562
GRCh38: 9:131520175-131520175
4 POMT1 NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg) SNV Pathogenic 3244 rs119462983 GRCh37: 9:134381571-134381571
GRCh38: 9:131506184-131506184
5 POMT1 NM_001077365.2(POMT1):c.1175+1G>A SNV Pathogenic 3251 rs1051679985 GRCh37: 9:134388719-134388719
GRCh38: 9:131513332-131513332
6 POMT1 NM_001077365.2(POMT1):c.443C>A (p.Thr148Asn) SNV Pathogenic 562183 rs1564341846 GRCh37: 9:134384313-134384313
GRCh38: 9:131508926-131508926
7 POMT1 NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) SNV Pathogenic 502224 rs765230689 GRCh37: 9:134387431-134387431
GRCh38: 9:131512044-131512044
8 POMT1 NM_001077365.2(POMT1):c.1921C>T (p.Leu641Phe) SNV Pathogenic 488581 rs777437871 GRCh37: 9:134397529-134397529
GRCh38: 9:131522142-131522142
9 POMT1 NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter) SNV Pathogenic 3245 rs119462985 GRCh37: 9:134394332-134394332
GRCh38: 9:131518945-131518945
10 POMT1 NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) SNV Pathogenic 3250 rs119462987 GRCh37: 9:134397547-134397547
GRCh38: 9:131522160-131522160
11 POMT1 NM_001077365.2(POMT1):c.2111_2112TC[1] (p.Ser705fs) Microsatellite Pathogenic 3252 rs587777819 GRCh37: 9:134398425-134398426
GRCh38: 9:131523038-131523039
12 POMT1 NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) Duplication Pathogenic 3255 rs398124245 GRCh37: 9:134398412-134398413
GRCh38: 9:131523025-131523026
13 POMT1 NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter) SNV Pathogenic 471374 rs1554780670 GRCh37: 9:134393920-134393920
GRCh38: 9:131518533-131518533
14 POMT1 NM_001077365.2(POMT1):c.605+1G>C SNV Pathogenic 538720 rs766648827 GRCh37: 9:134385196-134385196
GRCh38: 9:131509809-131509809
15 POMT1 NM_001077365.2(POMT1):c.699+62del Deletion Pathogenic 538723 rs1356791510 GRCh37: 9:134385445-134385445
GRCh38: 9:131510058-131510058
16 POMT1 NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) SNV Pathogenic 3250 rs119462987 GRCh37: 9:134397547-134397547
GRCh38: 9:131522160-131522160
17 POMT1 NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) SNV Pathogenic 95452 rs200056620 GRCh37: 9:134388630-134388630
GRCh38: 9:131513243-131513243
18 POMT1 NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) SNV Pathogenic 95452 rs200056620 GRCh37: 9:134388630-134388630
GRCh38: 9:131513243-131513243
19 POMT1 NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) SNV Pathogenic 194859 rs794727208 GRCh37: 9:134396832-134396832
GRCh38: 9:131521445-131521445
20 POMT1 NM_001077365.2(POMT1):c.606del (p.Ile203fs) Deletion Pathogenic 638831 rs1588375386 GRCh37: 9:134385290-134385290
GRCh38: 9:131509903-131509903
21 POMT1 NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) Deletion Pathogenic 594265 rs1564364615 GRCh37: 9:134390832-134390833
GRCh38: 9:131515445-131515446
22 POMT1 NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter) SNV Pathogenic 658622 rs1588391612 GRCh37: 9:134386846-134386846
GRCh38: 9:131511459-131511459
23 POMT1 NM_001077365.2(POMT1):c.1671del (p.Ile557fs) Deletion Pathogenic 848752 GRCh37: 9:134395552-134395552
GRCh38: 9:131520165-131520165
24 POMT1 NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs) Duplication Pathogenic 655295 rs1315540509 GRCh37: 9:134397437-134397438
GRCh38: 9:131522050-131522051
25 POMT1 NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer) Deletion Pathogenic 864585 GRCh37: 9:134382888-134382888
GRCh38: 9:131507501-131507501
26 POMT1 NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter) SNV Pathogenic 956205 GRCh37: 9:134381824-134381824
GRCh38: 9:131506437-131506437
27 POMT1 NM_001077365.2(POMT1):c.1091del (p.Leu364fs) Deletion Pathogenic 933596 GRCh37: 9:134388634-134388634
GRCh38: 9:131513247-131513247
28 POMT1 NM_001077365.2(POMT1):c.1457G>A (p.Trp486Ter) SNV Pathogenic 936444 GRCh37: 9:134394315-134394315
GRCh38: 9:131518928-131518928
29 POMT1 NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) SNV Pathogenic 3246 rs119462986 GRCh37: 9:134396738-134396738
GRCh38: 9:131521351-131521351
30 POMT1 NM_001077365.2(POMT1):c.1699-1G>A SNV Likely pathogenic 946669 GRCh37: 9:134396732-134396732
GRCh38: 9:131521345-131521345
31 POMT1 NM_001077365.2(POMT1):c.229+2T>C SNV Likely pathogenic 953462 GRCh37: 9:134381609-134381609
GRCh38: 9:131506222-131506222
32 POMT1 NM_001077365.2(POMT1):c.174_176CTT[2] (p.Phe60del) Microsatellite Likely pathogenic 431953 rs750195040 GRCh37: 9:134381551-134381553
GRCh38: 9:131506164-131506166
33 POMT1 NM_001077365.2(POMT1):c.1698+1G>A SNV Likely pathogenic 631540 rs763586263 GRCh37: 9:134395581-134395581
GRCh38: 9:131520194-131520194
34 POMT1 NM_001077365.2(POMT1):c.1272+2T>C SNV Likely pathogenic 580081 rs1564365317 GRCh37: 9:134390911-134390911
GRCh38: 9:131515524-131515524
35 POMT1 NM_001077365.2(POMT1):c.987-2A>C SNV Likely pathogenic 580822 rs1453773610 GRCh37: 9:134387426-134387426
GRCh38: 9:131512039-131512039
36 POMT1 NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) SNV Likely pathogenic 194962 rs149682171 GRCh37: 9:134397500-134397500
GRCh38: 9:131522113-131522113
37 POMT1 NM_001077365.2(POMT1):c.579_580del (p.Val195fs) Deletion Likely pathogenic 817606 rs1032439203 GRCh37: 9:134385169-134385170
GRCh38: 9:131509782-131509783
38 POMT1 NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) SNV Likely pathogenic 3243 rs119462982 GRCh37: 9:134385188-134385188
GRCh38: 9:131509801-131509801
39 POMT1 NM_001077365.2(POMT1):c.154T>C (p.Ser52Pro) SNV Uncertain significance 471378 rs1554771665 GRCh37: 9:134381532-134381532
GRCh38: 9:131506145-131506145
40 POMT1 NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser) SNV Uncertain significance 471383 rs182295674 GRCh37: 9:134384358-134384358
GRCh38: 9:131508971-131508971
41 POMT1 NM_001077365.2(POMT1):c.151A>T (p.Ile51Phe) SNV Uncertain significance 291107 rs886044651 GRCh37: 9:134381529-134381529
GRCh38: 9:131506142-131506142
42 POMT1 NM_001077365.2(POMT1):c.389A>C (p.His130Pro) SNV Uncertain significance 471382 rs752880907 GRCh37: 9:134382863-134382863
GRCh38: 9:131507476-131507476
43 POMT1 NM_001077365.2(POMT1):c.1637G>C (p.Ser546Thr) SNV Uncertain significance 1027729 GRCh37: 9:134395519-134395519
GRCh38: 9:131520132-131520132
44 POMT1 NM_001077365.2(POMT1):c.1823A>G (p.Gln608Arg) SNV Uncertain significance 471379 rs145021255 GRCh37: 9:134396857-134396857
GRCh38: 9:131521470-131521470
45 POMT1 NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) SNV Uncertain significance 288794 rs201073763 GRCh37: 9:134385736-134385736
GRCh38: 9:131510349-131510349
46 POMT1 NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) SNV Uncertain significance 195505 rs138902646 GRCh37: 9:134398412-134398412
GRCh38: 9:131523025-131523025
47 POMT1 NM_001077365.2(POMT1):c.332C>T (p.Ala111Val) SNV Uncertain significance 471381 rs371531181 GRCh37: 9:134382806-134382806
GRCh38: 9:131507419-131507419
48 POMT1 NM_001077365.2(POMT1):c.1480G>A (p.Gly494Ser) SNV Uncertain significance 471377 rs200204923 GRCh37: 9:134394338-134394338
GRCh38: 9:131518951-131518951
49 POMT1 NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) SNV Uncertain significance 285812 rs199498900 GRCh37: 9:134385176-134385176
GRCh38: 9:131509789-131509789
50 POMT1 NM_001077365.2(POMT1):c.122+5G>A SNV Uncertain significance 285653 rs376753193 GRCh37: 9:134379732-134379732
GRCh38: 9:131504345-131504345
51 POMT1 NM_001077365.2(POMT1):c.328C>T (p.Leu110Phe) SNV Uncertain significance 538719 rs1338443127 GRCh37: 9:134382802-134382802
GRCh38: 9:131507415-131507415
52 POMT1 NM_001077365.2(POMT1):c.1084C>A (p.His362Asn) SNV Uncertain significance 523495 rs141229412 GRCh37: 9:134388627-134388627
GRCh38: 9:131513240-131513240
53 POMT1 NM_001077365.2(POMT1):c.2027T>C (p.Phe676Ser) SNV Uncertain significance 538721 rs1201402718 GRCh37: 9:134398342-134398342
GRCh38: 9:131522955-131522955
54 POMT1 NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys) SNV Uncertain significance 538722 rs752384050 GRCh37: 9:134393889-134393889
GRCh38: 9:131518502-131518502
55 POMT1 NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp) SNV Uncertain significance 283451 rs886042627 GRCh37: 9:134386736-134386736
GRCh38: 9:131511349-131511349
56 POMT1 NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter) SNV Uncertain significance 211946 rs202202445 GRCh37: 9:134398482-134398482
GRCh38: 9:131523095-131523095
57 POMT1 NM_001077365.2(POMT1):c.986+5G>A SNV Uncertain significance 429561 rs370096853 GRCh37: 9:134386859-134386859
GRCh38: 9:131511472-131511472
58 POMT1 NM_001077365.2(POMT1):c.803G>A (p.Arg268His) SNV Uncertain significance 436376 rs369644530 GRCh37: 9:134385750-134385750
GRCh38: 9:131510363-131510363
59 POMT1 NM_001077365.2(POMT1):c.1193C>T (p.Pro398Leu) SNV Uncertain significance 471373 rs776388419 GRCh37: 9:134390830-134390830
GRCh38: 9:131515443-131515443
60 POMT1 NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) SNV Uncertain significance 286030 rs200508760 GRCh37: 9:134388660-134388660
GRCh38: 9:131513273-131513273
61 POMT1 NM_001077365.2(POMT1):c.1795C>T (p.Arg599Trp) SNV Uncertain significance 285305 rs150899645 GRCh37: 9:134396829-134396829
GRCh38: 9:131521442-131521442
62 POMT1 NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) SNV Uncertain significance 432550 rs779771679 GRCh37: 9:134385671-134385671
GRCh38: 9:131510284-131510284
63 POMT1 NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) SNV Uncertain significance 211945 rs535544133 GRCh37: 9:134398374-134398374
GRCh38: 9:131522987-131522987
64 POMT1 NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser) SNV Uncertain significance 471375 rs746849558 GRCh37: 9:134394249-134394249
GRCh38: 9:131518862-131518862
65 POMT1 NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) SNV Uncertain significance 285835 rs146234177 GRCh37: 9:134388693-134388693
GRCh38: 9:131513306-131513306
66 POMT1 NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) SNV Uncertain significance 498220 rs199682341 GRCh37: 9:134395480-134395480
GRCh38: 9:131520093-131520093
67 POMT1 NM_001077365.2(POMT1):c.629C>T (p.Thr210Met) SNV Uncertain significance 501991 rs377037072 GRCh37: 9:134385313-134385313
GRCh38: 9:131509926-131509926
68 POMT1 NM_001077365.2(POMT1):c.401T>C (p.Met134Thr) SNV Uncertain significance 574156 rs780170650 GRCh37: 9:134382875-134382875
GRCh38: 9:131507488-131507488
69 POMT1 NM_001077365.2(POMT1):c.2003+4C>T SNV Uncertain significance 285700 rs766635497 GRCh37: 9:134397615-134397615
GRCh38: 9:131522228-131522228
70 POMT1 NM_001077365.2(POMT1):c.1555A>G (p.Ser519Gly) SNV Uncertain significance 575648 rs1564381465 GRCh37: 9:134394844-134394844
GRCh38: 9:131519457-131519457
71 POMT1 NM_001077365.2(POMT1):c.1163G>A (p.Arg388His) SNV Uncertain significance 575771 rs138640226 GRCh37: 9:134388706-134388706
GRCh38: 9:131513319-131513319
72 POMT1 NM_001077365.2(POMT1):c.424A>T (p.Ile142Phe) SNV Uncertain significance 284889 rs141833028 GRCh37: 9:134382898-134382898
GRCh38: 9:131507511-131507511
73 POMT1 NM_001077365.2(POMT1):c.698A>G (p.Asn233Ser) SNV Uncertain significance 288930 rs139774354 GRCh37: 9:134385382-134385382
GRCh38: 9:131509995-131509995
74 POMT1 NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) SNV Uncertain significance 373970 rs202140413 GRCh37: 9:134396827-134396827
GRCh38: 9:131521440-131521440
75 POMT1 NM_001077365.2(POMT1):c.1763A>G (p.Tyr588Cys) SNV Uncertain significance 538724 rs772131719 GRCh37: 9:134396797-134396797
GRCh38: 9:131521410-131521410
76 POMT1 NM_001077365.2(POMT1):c.1229T>C (p.Ile410Thr) SNV Uncertain significance 538725 rs1554778053 GRCh37: 9:134390866-134390866
GRCh38: 9:131515479-131515479
77 POMT1 NM_001077365.2(POMT1):c.757G>A (p.Val253Ile) SNV Uncertain significance 502092 rs772590277 GRCh37: 9:134385704-134385704
GRCh38: 9:131510317-131510317
78 POMT1 NM_001077365.2(POMT1):c.426C>T (p.Ile142=) SNV Uncertain significance 538726 rs771390000 GRCh37: 9:134382900-134382900
GRCh38: 9:131507513-131507513
79 POMT1 NM_001077365.2(POMT1):c.2138G>A (p.Arg713His) SNV Uncertain significance 538718 rs938573554 GRCh37: 9:134398453-134398453
GRCh38: 9:131523066-131523066
80 POMT1 NM_001077365.2(POMT1):c.2067C>A (p.His689Gln) SNV Uncertain significance 365284 rs141895982 GRCh37: 9:134398382-134398382
GRCh38: 9:131522995-131522995
81 POMT1 NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) SNV Uncertain significance 260143 rs144338642 GRCh37: 9:134396761-134396761
GRCh38: 9:131521374-131521374
82 POMT1 NM_001077365.2(POMT1):c.1540G>A (p.Val514Ile) SNV Uncertain significance 568485 rs984288781 GRCh37: 9:134394829-134394829
GRCh38: 9:131519442-131519442
83 POMT1 NM_001077365.2(POMT1):c.2084G>A (p.Arg695His) SNV Uncertain significance 568812 rs373402995 GRCh37: 9:134398399-134398399
GRCh38: 9:131523012-131523012
84 POMT1 NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys) SNV Uncertain significance 581492 rs200179598 GRCh37: 9:134398398-134398398
GRCh38: 9:131523011-131523011
85 POMT1 NM_001077365.2(POMT1):c.2090T>A (p.Leu697His) SNV Uncertain significance 581594 rs753872714 GRCh37: 9:134398405-134398405
GRCh38: 9:131523018-131523018
86 POMT1 NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) SNV Uncertain significance 288794 rs201073763 GRCh37: 9:134385736-134385736
GRCh38: 9:131510349-131510349
87 POMT1 NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) SNV Uncertain significance 286908 rs747506380 GRCh37: 9:134385794-134385794
GRCh38: 9:131510407-131510407
88 POMT1 NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) SNV Uncertain significance 285835 rs146234177 GRCh37: 9:134388693-134388693
GRCh38: 9:131513306-131513306
89 POMT1 NM_001077365.2(POMT1):c.1253C>T (p.Ala418Val) SNV Uncertain significance 285174 rs369651101 GRCh37: 9:134390890-134390890
GRCh38: 9:131515503-131515503
90 POMT1 NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) SNV Uncertain significance 211945 rs535544133 GRCh37: 9:134398374-134398374
GRCh38: 9:131522987-131522987
91 POMT1 NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter) SNV Uncertain significance 211946 rs202202445 GRCh37: 9:134398482-134398482
GRCh38: 9:131523095-131523095
92 POMT1 NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) SNV Uncertain significance 502200 rs757903559 GRCh37: 9:134381575-134381575
GRCh38: 9:131506188-131506188
93 POMT1 NM_001077365.2(POMT1):c.367G>T (p.Val123Leu) SNV Uncertain significance 663812 rs1424629668 GRCh37: 9:134382841-134382841
GRCh38: 9:131507454-131507454
94 POMT1 NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser) SNV Uncertain significance 365282 rs756303645 GRCh37: 9:134397475-134397475
GRCh38: 9:131522088-131522088
95 POMT1 NM_001077365.2(POMT1):c.1162C>T (p.Arg388Cys) SNV Uncertain significance 500908 rs748087053 GRCh37: 9:134388705-134388705
GRCh38: 9:131513318-131513318
96 POMT1 NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln) SNV Uncertain significance 283065 rs367709136 GRCh37: 9:134396830-134396830
GRCh38: 9:131521443-131521443
97 POMT1 NM_001077365.2(POMT1):c.1658T>C (p.Leu553Pro) SNV Uncertain significance 649984 rs777490066 GRCh37: 9:134395540-134395540
GRCh38: 9:131520153-131520153
98 POMT1 NM_001077365.2(POMT1):c.1705A>C (p.Ile569Leu) SNV Uncertain significance 651359 rs1588493803 GRCh37: 9:134396739-134396739
GRCh38: 9:131521352-131521352
99 POMT1 NM_001077365.2(POMT1):c.1349C>A (p.Thr450Asn) SNV Uncertain significance 640202 rs757785909 GRCh37: 9:134393908-134393908
GRCh38: 9:131518521-131518521
100 POMT1 NM_001077365.2(POMT1):c.2123A>T (p.Glu708Val) SNV Uncertain significance 640916 rs975505270 GRCh37: 9:134398438-134398438
GRCh38: 9:131523051-131523051
101 POMT1 NM_001077365.2(POMT1):c.928G>A (p.Val310Ile) SNV Uncertain significance 497676 rs190112934 GRCh37: 9:134386796-134386796
GRCh38: 9:131511409-131511409
102 POMT1 NM_001077365.2(POMT1):c.1735G>C (p.Val579Leu) SNV Uncertain significance 644158 rs1588494128 GRCh37: 9:134396769-134396769
GRCh38: 9:131521382-131521382
103 POMT1 NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) SNV Uncertain significance 286908 rs747506380 GRCh37: 9:134385794-134385794
GRCh38: 9:131510407-131510407
104 POMT1 NM_001077365.2(POMT1):c.1490_1498del (p.Gln497_Gln499del) Deletion Uncertain significance 842462 GRCh37: 9:134394779-134394787
GRCh38: 9:131519392-131519400
105 POMT1 NM_001077365.2(POMT1):c.1052A>G (p.Asn351Ser) SNV Uncertain significance 843052 GRCh37: 9:134387493-134387493
GRCh38: 9:131512106-131512106
106 POMT1 NM_001077365.2(POMT1):c.2098G>T (p.Gly700Trp) SNV Uncertain significance 843477 GRCh37: 9:134398413-134398413
GRCh38: 9:131523026-131523026
107 POMT1 NM_001077365.2(POMT1):c.1729A>G (p.Ile577Val) SNV Uncertain significance 586369 rs749978093 GRCh37: 9:134396763-134396763
GRCh38: 9:131521376-131521376
108 POMT1 NM_001077365.2(POMT1):c.640G>A (p.Val214Met) SNV Uncertain significance 845697 GRCh37: 9:134385324-134385324
GRCh38: 9:131509937-131509937
109 POMT1 NM_001077365.2(POMT1):c.700G>A (p.Val234Ile) SNV Uncertain significance 845965 GRCh37: 9:134385647-134385647
GRCh38: 9:131510260-131510260
110 POMT1 NM_001077365.2(POMT1):c.855+6T>C SNV Uncertain significance 385971 rs200692465 GRCh37: 9:134385808-134385808
GRCh38: 9:131510421-131510421
111 POMT1 NM_001077365.2(POMT1):c.1109C>T (p.Pro370Leu) SNV Uncertain significance 850017 GRCh37: 9:134388652-134388652
GRCh38: 9:131513265-131513265
112 POMT1 NM_001077365.2(POMT1):c.879G>T (p.Gln293His) SNV Uncertain significance 852045 GRCh37: 9:134386747-134386747
GRCh38: 9:131511360-131511360
113 POMT1 NM_001077365.2(POMT1):c.1616C>T (p.Ser539Leu) SNV Uncertain significance 852488 GRCh37: 9:134395498-134395498
GRCh38: 9:131520111-131520111
114 POMT1 NM_001077365.2(POMT1):c.687G>C (p.Gln229His) SNV Uncertain significance 855070 GRCh37: 9:134385371-134385371
GRCh38: 9:131509984-131509984
115 POMT1 NM_001077365.2(POMT1):c.1439A>G (p.Tyr480Cys) SNV Uncertain significance 856405 GRCh37: 9:134394297-134394297
GRCh38: 9:131518910-131518910
116 POMT1 NM_001077365.2(POMT1):c.1399C>T (p.Arg467Trp) SNV Uncertain significance 857249 GRCh37: 9:134394257-134394257
GRCh38: 9:131518870-131518870
117 POMT1 NM_001077365.2(POMT1):c.516G>T (p.Lys172Asn) SNV Uncertain significance 858304 GRCh37: 9:134384386-134384386
GRCh38: 9:131508999-131508999
118 POMT1 NM_001077365.2(POMT1):c.1036C>T (p.Pro346Ser) SNV Uncertain significance 859872 GRCh37: 9:134387477-134387477
GRCh38: 9:131512090-131512090
119 POMT1 NM_001077365.2(POMT1):c.2002A>C (p.Arg668=) SNV Uncertain significance 859889 GRCh37: 9:134397610-134397610
GRCh38: 9:131522223-131522223
120 POMT1 NM_001077365.2(POMT1):c.1838G>A (p.Arg613His) SNV Uncertain significance 288003 rs147601415 GRCh37: 9:134397446-134397446
GRCh38: 9:131522059-131522059
121 POMT1 NM_001077365.2(POMT1):c.2101G>T (p.Asp701Tyr) SNV Uncertain significance 655812 rs771877812 GRCh37: 9:134398416-134398416
GRCh38: 9:131523029-131523029
122 overlap with 12 genes NC_000009.12:g.(?_130664644)_(131523116_?)dup Duplication Uncertain significance 830950 GRCh37: 9:133540031-134398503
GRCh38:
123 POMT1 NM_001077365.2(POMT1):c.1565C>T (p.Ala522Val) SNV Uncertain significance 835097 GRCh37: 9:134394854-134394854
GRCh38: 9:131519467-131519467
124 POMT1 NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) SNV Uncertain significance 95469 rs139660235 GRCh37: 9:134385699-134385699
GRCh38: 9:131510312-131510312
125 POMT1 NM_001077365.2(POMT1):c.2050T>C (p.Tyr684His) SNV Uncertain significance 954786 GRCh37: 9:134398365-134398365
GRCh38: 9:131522978-131522978
126 POMT1 NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) SNV Uncertain significance 95469 rs139660235 GRCh37: 9:134385699-134385699
GRCh38: 9:131510312-131510312
127 POMT1 NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) SNV Uncertain significance 95459 rs117985576 GRCh37: 9:134394788-134394788
GRCh38: 9:131519401-131519401
128 POMT1 NM_001077365.2(POMT1):c.1698+6C>T SNV Uncertain significance 289344 rs180847856 GRCh37: 9:134395586-134395586
GRCh38: 9:131520199-131520199
129 POMT1 NM_001077365.2(POMT1):c.247G>A (p.Asp83Asn) SNV Uncertain significance 290628 rs530211718 GRCh37: 9:134381807-134381807
GRCh38: 9:131506420-131506420
130 POMT1 NM_001077365.2(POMT1):c.1436G>C (p.Gly479Ala) SNV Uncertain significance 940502 GRCh37: 9:134394294-134394294
GRCh38: 9:131518907-131518907
131 POMT1 NM_001077365.2(POMT1):c.1176G>C (p.Thr392=) SNV Uncertain significance 940737 GRCh37: 9:134390813-134390813
GRCh38: 9:131515426-131515426
132 POMT1 NM_001077365.2(POMT1):c.1585T>C (p.Trp529Arg) SNV Uncertain significance 944272 GRCh37: 9:134395467-134395467
GRCh38: 9:131520080-131520080
133 POMT1 NM_001077365.2(POMT1):c.1253C>T (p.Ala418Val) SNV Uncertain significance 285174 rs369651101 GRCh37: 9:134390890-134390890
GRCh38: 9:131515503-131515503
134 POMT1 NM_001077365.2(POMT1):c.2114C>T (p.Ser705Leu) SNV Uncertain significance 935152 GRCh37: 9:134398429-134398429
GRCh38: 9:131523042-131523042
135 POMT1 NM_001077365.2(POMT1):c.634G>A (p.Val212Met) SNV Uncertain significance 282176 rs746119386 GRCh37: 9:134385318-134385318
GRCh38: 9:131509931-131509931
136 POMT1 NM_001077365.2(POMT1):c.699+27G>A SNV Uncertain significance 957263 GRCh37: 9:134385410-134385410
GRCh38: 9:131510023-131510023
137 POMT1 NM_001077365.2(POMT1):c.1433G>A (p.Arg478Gln) SNV Uncertain significance 957859 GRCh37: 9:134394291-134394291
GRCh38: 9:131518904-131518904
138 POMT1 NM_001077365.2(POMT1):c.1574C>T (p.Ser525Leu) SNV Uncertain significance 959174 GRCh37: 9:134394863-134394863
GRCh38: 9:131519476-131519476
139 POMT1 NM_001077365.2(POMT1):c.1432C>T (p.Arg478Trp) SNV Uncertain significance 959692 GRCh37: 9:134394290-134394290
GRCh38: 9:131518903-131518903
140 POMT1 NM_001077365.2(POMT1):c.1226A>G (p.Tyr409Cys) SNV Uncertain significance 961678 GRCh37: 9:134390863-134390863
GRCh38: 9:131515476-131515476
141 POMT1 NM_001077365.2(POMT1):c.934G>A (p.Gly312Arg) SNV Uncertain significance 962875 GRCh37: 9:134386802-134386802
GRCh38: 9:131511415-131511415
142 POMT1 NM_001077365.2(POMT1):c.1175+4_1175+7del Deletion Uncertain significance 800791 rs1588409344 GRCh37: 9:134388719-134388722
GRCh38: 9:131513332-131513335
143 POMT1 NM_001077365.2(POMT1):c.1252G>A (p.Ala418Thr) SNV Uncertain significance 166896 rs142057517 GRCh37: 9:134390889-134390889
GRCh38: 9:131515502-131515502
144 POMT1 NM_001077365.2(POMT1):c.721C>G (p.Leu241Val) SNV Uncertain significance 970512 GRCh37: 9:134385668-134385668
GRCh38: 9:131510281-131510281
145 POMT1 NM_001077365.2(POMT1):c.1444G>A (p.Gly482Arg) SNV Uncertain significance 972029 GRCh37: 9:134394302-134394302
GRCh38: 9:131518915-131518915
146 POMT1 NM_001077365.2(POMT1):c.205G>A (p.Gly69Ser) SNV Uncertain significance 998595 GRCh37: 9:134381583-134381583
GRCh38: 9:131506196-131506196
147 POMT1 NM_001077365.2(POMT1):c.1390T>G (p.Trp464Gly) SNV Uncertain significance 999084 GRCh37: 9:134394248-134394248
GRCh38: 9:131518861-131518861
148 POMT1 NM_001077365.2(POMT1):c.2078C>T (p.Thr693Met) SNV Uncertain significance 1003439 GRCh37: 9:134398393-134398393
GRCh38: 9:131523006-131523006
149 POMT1 NM_001077365.2(POMT1):c.1426C>G (p.Leu476Val) SNV Uncertain significance 1003504 GRCh37: 9:134394284-134394284
GRCh38: 9:131518897-131518897
150 POMT1 NM_001077365.2(POMT1):c.592T>A (p.Ser198Thr) SNV Uncertain significance 592745 rs767056835 GRCh37: 9:134385182-134385182
GRCh38: 9:131509795-131509795
151 POMT1 NM_001077365.2(POMT1):c.183G>A (p.Leu61=) SNV Uncertain significance 1004877 GRCh37: 9:134381561-134381561
GRCh38: 9:131506174-131506174
152 POMT1 NM_001077365.2(POMT1):c.1503_1508dup (p.500_501RE[4]) Duplication Uncertain significance 162593 rs727502853 GRCh37: 9:134394787-134394788
GRCh38: 9:131519400-131519401
153 POMT1 NM_001077365.2(POMT1):c.1548G>C (p.Arg516Ser) SNV Uncertain significance 1009714 GRCh37: 9:134394837-134394837
GRCh38: 9:131519450-131519450
154 POMT1 NM_001077365.2(POMT1):c.699+32C>T SNV Uncertain significance 1010883 GRCh37: 9:134385415-134385415
GRCh38: 9:131510028-131510028
155 POMT1 NM_001077365.2(POMT1):c.2178G>C (p.Ter726Tyr) SNV Uncertain significance 1011985 GRCh37: 9:134398493-134398493
GRCh38: 9:131523106-131523106
156 POMT1 NM_001077365.2(POMT1):c.1384C>T (p.Pro462Ser) SNV Uncertain significance 1013680 GRCh37: 9:134394242-134394242
GRCh38: 9:131518855-131518855
157 POMT1 NM_001077365.2(POMT1):c.1353C>A (p.Ser451=) SNV Uncertain significance 1021325 GRCh37: 9:134393912-134393912
GRCh38: 9:131518525-131518525
158 POMT1 NM_001077365.2(POMT1):c.1417G>A (p.Gly473Arg) SNV Uncertain significance 912852 GRCh37: 9:134394275-134394275
GRCh38: 9:131518888-131518888
159 POMT1 NM_001077365.2(POMT1):c.1125C>G (p.His375Gln) SNV Uncertain significance 1034728 GRCh37: 9:134388668-134388668
GRCh38: 9:131513281-131513281
160 POMT1 NM_001077365.2(POMT1):c.1127G>A (p.Gly376Glu) SNV Uncertain significance 1040150 GRCh37: 9:134388670-134388670
GRCh38: 9:131513283-131513283
161 POMT1 NM_001077365.2(POMT1):c.699+64G>C SNV Uncertain significance 1040933 GRCh37: 9:134385447-134385447
GRCh38: 9:131510060-131510060
162 POMT1 NM_001077365.2(POMT1):c.2068G>A (p.Val690Met) SNV Uncertain significance 805235 rs150209587 GRCh37: 9:134398383-134398383
GRCh38: 9:131522996-131522996
163 POMT1 NM_001077365.2(POMT1):c.1251C>A (p.Pro417=) SNV Uncertain significance 1044663 GRCh37: 9:134390888-134390888
GRCh38: 9:131515501-131515501
164 POMT1 NM_001077365.2(POMT1):c.1576G>A (p.Glu526Lys) SNV Uncertain significance 1046331 GRCh37: 9:134394865-134394865
GRCh38: 9:131519478-131519478
165 POMT1 NM_001077365.2(POMT1):c.1485G>A (p.Ala495=) SNV Uncertain significance 1046756 GRCh37: 9:134394343-134394343
GRCh38: 9:131518956-131518956
166 POMT1 NM_001077365.2(POMT1):c.538A>C (p.Ser180Arg) SNV Uncertain significance 1047369 GRCh37: 9:134384408-134384408
GRCh38: 9:131509021-131509021
167 POMT1 NM_001077365.2(POMT1):c.1465_1467GAG[1] (p.Glu490del) Microsatellite Uncertain significance 834565 GRCh37: 9:134394322-134394324
GRCh38: 9:131518935-131518937
168 POMT1 NM_001077365.2(POMT1):c.1907A>G (p.Glu636Gly) SNV Uncertain significance 1053642 GRCh37: 9:134397515-134397515
GRCh38: 9:131522128-131522128
169 POMT1 NM_001077365.2(POMT1):c.539+3A>G SNV Uncertain significance 383121 rs780457748 GRCh37: 9:134384412-134384412
GRCh38: 9:131509025-131509025
170 POMT1 NC_000009.11:g.(?_134379574)_(134398503_?)dup Duplication Uncertain significance 1054403 GRCh37: 9:134379574-134398503
GRCh38:
171 POMT1 NM_001077365.2(POMT1):c.620G>A (p.Gly207Asp) SNV Uncertain significance 595812 rs765733801 GRCh37: 9:134385304-134385304
GRCh38: 9:131509917-131509917
172 POMT1 NM_001077365.2(POMT1):c.962_982del (p.Ser321_Met328delinsLeu) Deletion Uncertain significance 1056830 GRCh37: 9:134386830-134386850
GRCh38: 9:131511443-131511463
173 POMT1 NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn) SNV Uncertain significance 913172 GRCh37: 9:134385764-134385764
GRCh38: 9:131510377-131510377
174 POMT1 NM_001077365.2(POMT1):c.1484C>T (p.Ala495Val) SNV Uncertain significance 448111 rs761439623 GRCh37: 9:134394342-134394342
GRCh38: 9:131518955-131518955
175 POMT1 NM_001077365.2(POMT1):c.345G>A (p.Ser115=) SNV Uncertain significance 285048 rs147212285 GRCh37: 9:134382819-134382819
GRCh38: 9:131507432-131507432
176 POMT1 NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile) SNV Uncertain significance 912851 GRCh37: 9:134393916-134393916
GRCh38: 9:131518529-131518529
177 POMT1 NM_001077365.2(POMT1):c.1507G>A (p.Glu503Lys) SNV Uncertain significance 1062094 GRCh37: 9:134394796-134394796
GRCh38: 9:131519409-131519409
178 POMT1 NM_001077365.2(POMT1):c.1194C>A (p.Pro398=) SNV Likely benign 598425 rs371653610 GRCh37: 9:134390831-134390831
GRCh38: 9:131515444-131515444
179 POMT1 NM_001077365.2(POMT1):c.2058C>T (p.Ser686=) SNV Likely benign 288600 rs886043948 GRCh37: 9:134398373-134398373
GRCh38: 9:131522986-131522986
180 POMT1 NM_001077365.2(POMT1):c.1671T>C (p.Ile557=) SNV Likely benign 497189 rs200969468 GRCh37: 9:134395553-134395553
GRCh38: 9:131520166-131520166
181 POMT1 NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) SNV Likely benign 162591 rs150367385 GRCh37: 9:134394834-134394834
GRCh38: 9:131519447-131519447
182 POMT1 NM_001077365.2(POMT1):c.129C>T (p.Asp43=) SNV Likely benign 196451 rs200465419 GRCh37: 9:134381507-134381507
GRCh38: 9:131506120-131506120
183 POMT1 NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) SNV Likely benign 130012 rs144051476 GRCh37: 9:134398483-134398483
GRCh38: 9:131523096-131523096
184 POMT1 NM_001077365.2(POMT1):c.42C>T (p.Asp14=) SNV Likely benign 195272 rs150937126 GRCh37: 9:134379647-134379647
GRCh38: 9:131504260-131504260
185 POMT1 NM_001077365.2(POMT1):c.246C>T (p.Phe82=) SNV Likely benign 290090 rs148887050 GRCh37: 9:134381806-134381806
GRCh38: 9:131506419-131506419
186 POMT1 NM_001077365.2(POMT1):c.2031C>T (p.Ser677=) SNV Likely benign 499640 rs778418119 GRCh37: 9:134398346-134398346
GRCh38: 9:131522959-131522959
187 POMT1 NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) SNV Likely benign 95459 rs117985576 GRCh37: 9:134394788-134394788
GRCh38: 9:131519401-131519401
188 POMT1 NM_001077365.2(POMT1):c.846C>T (p.Ala282=) SNV Likely benign 286100 rs886043307 GRCh37: 9:134385793-134385793
GRCh38: 9:131510406-131510406
189 POMT1 NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) SNV Likely benign 211947 rs147143094 GRCh37: 9:134398493-134398493
GRCh38: 9:131523106-131523106
190 POMT1 NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) SNV Likely benign 195503 rs138902646 GRCh37: 9:134398412-134398412
GRCh38: 9:131523025-131523025
191 POMT1 NM_001077365.2(POMT1):c.986+9A>G SNV Likely benign 211944 rs202095070 GRCh37: 9:134386863-134386863
GRCh38: 9:131511476-131511476
192 POMT1 NM_001077365.2(POMT1):c.1866C>T (p.Ala622=) SNV Likely benign 706170 rs200652115 GRCh37: 9:134397474-134397474
GRCh38: 9:131522087-131522087
193 POMT1 NM_001077365.2(POMT1):c.1461C>T (p.Asn487=) SNV Likely benign 365279 rs373482514 GRCh37: 9:134394319-134394319
GRCh38: 9:131518932-131518932
194 POMT1 NM_001077365.2(POMT1):c.1366-6C>T SNV Likely benign 724310 rs781702944 GRCh37: 9:134394218-134394218
GRCh38: 9:131518831-131518831
195 POMT1 NM_001077365.2(POMT1):c.1323A>C (p.Ser441=) SNV Likely benign 365278 rs753403833 GRCh37: 9:134393882-134393882
GRCh38: 9:131518495-131518495
196 POMT1 NM_001077365.2(POMT1):c.639C>T (p.Leu213=) SNV Likely benign 77582 rs267602149 GRCh37: 9:134385323-134385323
GRCh38: 9:131509936-131509936
197 POMT1 NM_001077365.2(POMT1):c.1938C>T (p.Pro646=) SNV Likely benign 751369 rs1481940320 GRCh37: 9:134397546-134397546
GRCh38: 9:131522159-131522159
198 POMT1 NM_001077365.2(POMT1):c.1584+9C>T SNV Likely benign 767078 rs1219705170 GRCh37: 9:134394882-134394882
GRCh38: 9:131519495-131519495
199 POMT1 NM_001077365.2(POMT1):c.1365+10C>T SNV Likely benign 772046 rs200089530 GRCh37: 9:134393934-134393934
GRCh38: 9:131518547-131518547
200 POMT1 NM_001077365.2(POMT1):c.723C>T (p.Leu241=) SNV Likely benign 787357 rs765290860 GRCh37: 9:134385670-134385670
GRCh38: 9:131510283-131510283
201 POMT1 NM_001077365.2(POMT1):c.1116T>C (p.Pro372=) SNV Likely benign 538727 rs146945848 GRCh37: 9:134388659-134388659
GRCh38: 9:131513272-131513272
202 POMT1 NM_001077365.2(POMT1):c.2067C>T (p.His689=) SNV Likely benign 288187 rs141895982 GRCh37: 9:134398382-134398382
GRCh38: 9:131522995-131522995
203 POMT1 NM_001077365.2(POMT1):c.285C>T (p.Tyr95=) SNV Likely benign 471380 rs1554772428 GRCh37: 9:134382759-134382759
GRCh38: 9:131507372-131507372
204 POMT1 NM_001077365.2(POMT1):c.1826-7_1826-6delinsAA Indel Likely benign 419235 rs1064793740 GRCh37: 9:134397427-134397428
GRCh38: 9:131522040-131522041
205 POMT1 NM_001077365.2(POMT1):c.568C>T (p.Leu190=) SNV Likely benign 281263 rs752931210 GRCh37: 9:134385158-134385158
GRCh38: 9:131509771-131509771
206 POMT1 NM_001077365.2(POMT1):c.1068A>G (p.Val356=) SNV Likely benign 471372 rs1280401262 GRCh37: 9:134387509-134387509
GRCh38: 9:131512122-131512122
207 POMT1 NM_001077365.2(POMT1):c.280+7_280+8del Deletion Likely benign 436374 rs561658895 GRCh37: 9:134381846-134381847
GRCh38: 9:131506459-131506460
208 POMT1 NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) SNV Benign 130008 rs34954751 GRCh37: 9:134395574-134395574
GRCh38: 9:131520187-131520187
209 POMT1 NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) SNV Benign 285055 rs146869947 GRCh37: 9:134388669-134388669
GRCh38: 9:131513282-131513282
210 POMT1 NM_001077365.2(POMT1):c.876= (p.Thr292=) SNV Benign 471384 rs10901065 GRCh37: 9:134386744-134386744
GRCh38: 9:131511357-131511357
211 POMT1 NM_001077365.2(POMT1):c.1416C>T (p.Val472=) SNV Benign 95458 rs139687326 GRCh37: 9:134394274-134394274
GRCh38: 9:131518887-131518887
212 POMT1 NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) SNV Benign 130006 rs62620174 GRCh37: 9:134393834-134393834
GRCh38: 9:131518447-131518447
213 POMT1 NM_001077365.2(POMT1):c.1047= (p.Asp349=) SNV Benign 471371 rs3739494 GRCh37: 9:134387488-134387488
GRCh38: 9:131512101-131512101
214 POMT1 NM_001077365.2(POMT1):c.876= (p.Thr292=) SNV Benign 471384 rs10901065 GRCh37: 9:134386744-134386744
GRCh38: 9:131511357-131511357
215 POMT1 NM_001077365.2(POMT1):c.1047= (p.Asp349=) SNV Benign 471371 rs3739494 GRCh37: 9:134387488-134387488
GRCh38: 9:131512101-131512101
216 POMT1 NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) SNV Benign 130006 rs62620174 GRCh37: 9:134393834-134393834
GRCh38: 9:131518447-131518447
217 POMT1 NM_001077365.2(POMT1):c.699+52C>T SNV Benign 95466 rs3887873 GRCh37: 9:134385435-134385435
GRCh38: 9:131510048-131510048
218 POMT1 NM_001077365.2(POMT1):c.1149C>T (p.His383=) SNV Benign 281283 rs202121299 GRCh37: 9:134388692-134388692
GRCh38: 9:131513305-131513305
219 POMT1 NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) SNV Benign 166900 rs150814269 GRCh37: 9:134395580-134395580
GRCh38: 9:131520193-131520193
220 POMT1 NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) SNV Benign 260147 rs138171526 GRCh37: 9:134398375-134398375
GRCh38: 9:131522988-131522988
221 POMT1 NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) SNV Benign 130011 rs12115566 GRCh37: 9:134397464-134397464
GRCh38: 9:131522077-131522077
222 POMT1 NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) SNV Benign 284058 rs146512619 GRCh37: 9:134397540-134397540
GRCh38: 9:131522153-131522153
223 POMT1 NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) SNV Benign 130007 rs62636653 GRCh37: 9:134394337-134394337
GRCh38: 9:131518950-131518950
224 POMT1 NM_001077365.2(POMT1):c.1826-7C>A SNV Benign 130010 rs148180760 GRCh37: 9:134397427-134397427
GRCh38: 9:131522040-131522040
225 POMT1 NM_001077365.2(POMT1):c.891G>A (p.Leu297=) SNV Benign 95470 rs76109289 GRCh37: 9:134386759-134386759
GRCh38: 9:131511372-131511372
226 POMT1 NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) SNV Benign 218515 rs377304621 GRCh37: 9:134393862-134393862
GRCh38: 9:131518475-131518475
227 POMT1 NM_001077365.2(POMT1):c.78G>A (p.Gly26=) SNV Benign 130013 rs149554732 GRCh37: 9:134379683-134379683
GRCh38: 9:131504296-131504296
228 POMT1 NM_001077365.2(POMT1):c.330C>G (p.Leu110=) SNV Benign 283974 rs138064523 GRCh37: 9:134382804-134382804
GRCh38: 9:131507417-131507417
229 POMT1 NM_001077365.2(POMT1):c.1125C>T (p.His375=) SNV Benign 130005 rs35242383 GRCh37: 9:134388668-134388668
GRCh38: 9:131513281-131513281
230 POMT1 NM_001077365.2(POMT1):c.699+53= SNV Benign 95467 rs2296949 GRCh37: 9:134385436-134385436
GRCh38: 9:131510049-131510049
231 POMT1 NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) SNV Benign 95463 rs147266709 GRCh37: 9:134398452-134398452
GRCh38: 9:131523065-131523065
232 POMT1 NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) SNV Benign 95455 rs11243406 GRCh37: 9:134390870-134390870
GRCh38: 9:131515483-131515483
233 POMT1 NM_001077365.2(POMT1):c.699+53= SNV Benign 95467 rs2296949 GRCh37: 9:134385436-134385436
GRCh38: 9:131510049-131510049
234 POMT1 NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) SNV Benign 95471 rs4740164 GRCh37: 9:134386781-134386781
GRCh38: 9:131511394-131511394
235 POMT1 NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) SNV Benign 95455 rs11243406 GRCh37: 9:134390870-134390870
GRCh38: 9:131515483-131515483
236 POMT1 NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) SNV Benign 260145 rs140553130 GRCh37: 9:134397594-134397594
GRCh38: 9:131522207-131522207
237 POMT1 NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) SNV Benign 95462 rs76092524 GRCh37: 9:134398430-134398430
GRCh38: 9:131523043-131523043
238 POMT1 NM_001077365.2(POMT1):c.1826-6C>A SNV Benign 130009 rs140258585 GRCh37: 9:134397428-134397428
GRCh38: 9:131522041-131522041
239 POMT1 NM_001077365.2(POMT1):c.1698+10C>A SNV Benign 498350 rs184131819 GRCh37: 9:134395590-134395590
GRCh38: 9:131520203-131520203

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

72 (showing 4, show less)
# Symbol AA change Variation ID SNP ID
1 POMT1 p.Gly65Arg VAR_065027 rs119462983
2 POMT1 p.Trp582Cys VAR_065034 rs119462984
3 POMT1 p.Gln590His VAR_065035 rs119462986
4 POMT1 p.Ala669Thr VAR_065036 rs119462987

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 1.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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