MDDGA6
MCID: MSC041
MIFTS: 28

Muscular Dystrophy-Dystroglycanopathy , Type a, 6 (MDDGA6)

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 6 57 72 13 6 70
Mddga6 57 72
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A6 72
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Large-Related 57
Muscle-Eye-Brain Disease Large-Related 72
Walker-Warburg Syndrome Large-Related 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset prenatally or at birth
four patients have been reported


HPO:

31
muscular dystrophy-dystroglycanopathy , type a, 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

OMIM® : 57 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (613154) (Updated 20-May-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 6, also known as mddga6, is related to congenital muscular dystrophy-dystroglycanopathy type a6. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6 is LARGE1 (LARGE Xylosyl- And Glucuronyltransferase 1). Affiliated tissues include eye, brain and cerebellum, and related phenotypes are dandy-walker malformation and intellectual disability

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle- eye-brain disease.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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 a, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy-dystroglycanopathy type a6 11.0

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

31 (showing 13, show less)
# Description HPO Frequency HPO Source Accession
1 dandy-walker malformation 31 frequent (33%) HP:0001305
2 intellectual disability 31 HP:0001249
3 hydrocephalus 31 HP:0000238
4 cataract 31 HP:0000518
5 optic atrophy 31 HP:0000648
6 flexion contracture 31 HP:0001371
7 elevated serum creatine kinase 31 HP:0003236
8 areflexia 31 HP:0001284
9 severe muscular hypotonia 31 HP:0006829
10 muscular dystrophy 31 HP:0003560
11 hypoplasia of the pons 31 HP:0012110
12 retinal dysplasia 31 HP:0007973
13 type ii lissencephaly 31 HP:0007260

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hydrocephalus
areflexia
mental retardation
ventricular dilatation
pontine hypoplasia
more
Muscle Soft Tissue:
muscular dystrophy
hypotonia, severe
muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, )

Skeletal:
contractures

Head And Neck Eyes:
cataract
optic atrophy
retinal dysplasia

Laboratory Abnormalities:
increased serum creatine kinase

Skeletal Skull:
widened anterior fontanelles

Clinical features from OMIM®:

613154 (Updated 20-May-2021)

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

40
Eye, Brain, Cerebellum, Pons

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

(showing 4, show less)
# Title Authors PMID Year
1
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6 57
19299310 2009
2
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. 6 57
19067344 2008
3
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. 6 57
17436019 2007
4
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 57
17878207 2007

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

6 (showing 112, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LARGE1 LARGE1, 63-KB DEL Deletion Pathogenic 6218 GRCh37:
GRCh38:
2 LARGE1 LARGE1, GLN87FS Variation Pathogenic 6220 GRCh37:
GRCh38:
3 LARGE1 NM_004737.6(LARGE1):c.1483T>C (p.Trp495Arg) SNV Pathogenic 6219 rs267607209 GRCh37: 22:33700462-33700462
GRCh38: 22:33304476-33304476
4 LARGE1 NM_004737.6(LARGE1):c.992C>T (p.Ser331Phe) SNV Pathogenic 6221 rs267607210 GRCh37: 22:33780191-33780191
GRCh38: 22:33384205-33384205
5 LARGE1 NM_004737.6(LARGE1):c.283C>T (p.Arg95Ter) SNV Pathogenic 495057 rs761071115 GRCh37: 22:34046478-34046478
GRCh38: 22:33650492-33650492
6 LARGE1 NM_004737.6(LARGE1):c.1033_1034dup (p.Asn345fs) Duplication Likely pathogenic 562016 rs1569112355 GRCh37: 22:33778001-33778002
GRCh38: 22:33382015-33382016
7 LARGE1 NM_004737.6(LARGE1):c.188A>G (p.Glu63Gly) SNV Uncertain significance 464471 rs539747006 GRCh37: 22:34046573-34046573
GRCh38: 22:33650587-33650587
8 LARGE1 NM_133642.5(LARGE1):c.-202C>A SNV Uncertain significance 899426 GRCh37: 22:34316102-34316102
GRCh38: 22:33920114-33920114
9 LARGE1 NM_133642.5(LARGE1):c.-527C>T SNV Uncertain significance 899475 GRCh37: 22:34316427-34316427
GRCh38: 22:33920439-33920439
10 LARGE1 NM_133642.5(LARGE1):c.*995T>C SNV Uncertain significance 900197 GRCh37: 22:33669418-33669418
GRCh38: 22:33273432-33273432
11 LARGE1 NM_133642.5(LARGE1):c.*969G>A SNV Uncertain significance 900198 GRCh37: 22:33669444-33669444
GRCh38: 22:33273458-33273458
12 LARGE1 NM_133642.5(LARGE1):c.1005+15T>G SNV Uncertain significance 900384 GRCh37: 22:33780163-33780163
GRCh38: 22:33384177-33384177
13 LARGE1 NM_004737.6(LARGE1):c.909T>G (p.Leu303=) SNV Uncertain significance 287758 rs563144239 GRCh37: 22:33780274-33780274
GRCh38: 22:33384288-33384288
14 LARGE1 NM_004737.6(LARGE1):c.584G>A (p.Arg195His) SNV Uncertain significance 533121 rs147597912 GRCh37: 22:34000452-34000452
GRCh38: 22:33604466-33604466
15 LARGE1 NM_133642.5(LARGE1):c.492-6C>G SNV Uncertain significance 900444 GRCh37: 22:34000550-34000550
GRCh38: 22:33604564-33604564
16 LARGE1 NM_004737.6(LARGE1):c.99C>T (p.Ser33=) SNV Uncertain significance 704457 rs377353667 GRCh37: 22:34157365-34157365
GRCh38: 22:33761378-33761378
17 LARGE1 NM_133642.5(LARGE1):c.*186C>T SNV Uncertain significance 901423 GRCh37: 22:33670227-33670227
GRCh38: 22:33274241-33274241
18 LARGE1 NM_133642.5(LARGE1):c.*155C>T SNV Uncertain significance 901424 GRCh37: 22:33670258-33670258
GRCh38: 22:33274272-33274272
19 LARGE1 NM_004737.6(LARGE1):c.1320C>T (p.Asp440=) SNV Uncertain significance 341433 rs772615481 GRCh37: 22:33712202-33712202
GRCh38: 22:33316216-33316216
20 LARGE1 NM_004737.6(LARGE1):c.*580C>T SNV Uncertain significance 341423 rs776235903 GRCh37: 22:33669833-33669833
GRCh38: 22:33273847-33273847
21 LARGE1 NM_004737.6(LARGE1):c.2073+11C>T SNV Uncertain significance 341432 rs774384587 GRCh37: 22:33673035-33673035
GRCh38: 22:33277049-33277049
22 LARGE1 NM_004737.6(LARGE1):c.-310T>G SNV Uncertain significance 341446 rs886057463 GRCh37: 22:34316147-34316147
GRCh38: 22:33920159-33920159
23 LARGE1 NM_004737.6(LARGE1):c.-305C>T SNV Uncertain significance 341445 rs886057462 GRCh37: 22:34316142-34316142
GRCh38: 22:33920154-33920154
24 LARGE1 NM_004737.6(LARGE1):c.-422C>G SNV Uncertain significance 341452 rs886057468 GRCh37: 22:34316259-34316259
GRCh38: 22:33920271-33920271
25 LARGE1 NM_133642.5(LARGE1):c.1600G>A (p.Val534Met) SNV Uncertain significance 901481 GRCh37: 22:33700345-33700345
GRCh38: 22:33304359-33304359
26 LARGE1 NM_133642.5(LARGE1):c.*699G>A SNV Uncertain significance 901908 GRCh37: 22:33669714-33669714
GRCh38: 22:33273728-33273728
27 LARGE1 NM_133642.5(LARGE1):c.2212A>G (p.Met738Val) SNV Uncertain significance 901972 GRCh37: 22:33670472-33670472
GRCh38: 22:33274486-33274486
28 LARGE1 NM_133642.5(LARGE1):c.2073+12G>A SNV Uncertain significance 901973 GRCh37: 22:33673034-33673034
GRCh38: 22:33277048-33277048
29 LARGE1 NM_133642.5(LARGE1):c.1426C>A (p.Leu476Met) SNV Uncertain significance 902051 GRCh37: 22:33712096-33712096
GRCh38: 22:33316110-33316110
30 LARGE1 NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=) SNV Uncertain significance 902052 GRCh37: 22:33712133-33712133
GRCh38: 22:33316147-33316147
31 LARGE1 NM_133642.5(LARGE1):c.479T>G (p.Val160Gly) SNV Uncertain significance 902108 GRCh37: 22:34022240-34022240
GRCh38: 22:33626256-33626256
32 LARGE1 NM_133642.5(LARGE1):c.460G>A (p.Val154Ile) SNV Uncertain significance 902109 GRCh37: 22:34022259-34022259
GRCh38: 22:33626275-33626275
33 LARGE1 NM_133642.5(LARGE1):c.-47C>T SNV Uncertain significance 902165 GRCh37: 22:34157510-34157510
GRCh38: 22:33761523-33761523
34 LARGE1 NM_133642.5(LARGE1):c.-377C>G SNV Uncertain significance 902215 GRCh37: 22:34316277-34316277
GRCh38: 22:33920289-33920289
35 LARGE1 NM_133642.5(LARGE1):c.*1229G>A SNV Uncertain significance 902760 GRCh37: 22:33669184-33669184
GRCh38: 22:33273198-33273198
36 LARGE1 NM_133642.5(LARGE1):c.*639T>G SNV Uncertain significance 902818 GRCh37: 22:33669774-33669774
GRCh38: 22:33273788-33273788
37 LARGE1 NM_133642.5(LARGE1):c.*566G>A SNV Uncertain significance 902819 GRCh37: 22:33669847-33669847
GRCh38: 22:33273861-33273861
38 LARGE1 NM_133642.5(LARGE1):c.2070G>A (p.Val690=) SNV Uncertain significance 902872 GRCh37: 22:33673049-33673049
GRCh38: 22:33277063-33277063
39 LARGE1 NM_133642.5(LARGE1):c.230G>A (p.Arg77His) SNV Uncertain significance 902995 GRCh37: 22:34046531-34046531
GRCh38: 22:33650545-33650545
40 LARGE1 NM_133642.5(LARGE1):c.220G>A (p.Glu74Lys) SNV Uncertain significance 902997 GRCh37: 22:34046541-34046541
GRCh38: 22:33650555-33650555
41 LARGE1 NM_133642.5(LARGE1):c.-194G>A SNV Uncertain significance 903046 GRCh37: 22:34316094-34316094
GRCh38: 22:33920106-33920106
42 LARGE1 NM_133642.5(LARGE1):c.-500T>C SNV Uncertain significance 903100 GRCh37: 22:34316400-34316400
GRCh38: 22:33920412-33920412
43 LARGE1 NM_004737.6(LARGE1):c.1092C>T (p.Thr364=) SNV Uncertain significance 289726 rs144216539 GRCh37: 22:33777944-33777944
GRCh38: 22:33381958-33381958
44 LARGE1 NM_004737.6(LARGE1):c.1962G>A (p.Glu654=) SNV Uncertain significance 194517 rs141089495 GRCh37: 22:33673157-33673157
GRCh38: 22:33277171-33277171
45 LARGE1 NM_004737.6(LARGE1):c.*479A>T SNV Uncertain significance 341426 rs886057459 GRCh37: 22:33669934-33669934
GRCh38: 22:33273948-33273948
46 LARGE1 NM_004737.6(LARGE1):c.*833A>G SNV Uncertain significance 341417 rs748248240 GRCh37: 22:33669580-33669580
GRCh38: 22:33273594-33273594
47 LARGE1 NM_004737.6(LARGE1):c.-340T>G SNV Uncertain significance 341448 rs886057464 GRCh37: 22:34316177-34316177
GRCh38: 22:33920189-33920189
48 LARGE1 NM_004737.6(LARGE1):c.-350A>G SNV Uncertain significance 341449 rs886057465 GRCh37: 22:34316187-34316187
GRCh38: 22:33920199-33920199
49 LARGE1 NM_004737.6(LARGE1):c.-462A>T SNV Uncertain significance 341454 rs535216289 GRCh37: 22:34316299-34316299
GRCh38: 22:33920311-33920311
50 LARGE1 NM_004737.6(LARGE1):c.-518G>A SNV Uncertain significance 341455 rs532736408 GRCh37: 22:34316355-34316355
GRCh38: 22:33920367-33920367
51 LARGE1 NM_004737.6(LARGE1):c.-145-9A>C SNV Uncertain significance 341442 rs759992064 GRCh37: 22:34252799-34252799
GRCh38: 22:33856811-33856811
52 LARGE1 NM_004737.6(LARGE1):c.*100C>A SNV Uncertain significance 341430 rs567278765 GRCh37: 22:33670313-33670313
GRCh38: 22:33274327-33274327
53 LARGE1 NM_004737.6(LARGE1):c.*998A>G SNV Uncertain significance 341413 rs886057455 GRCh37: 22:33669415-33669415
GRCh38: 22:33273429-33273429
54 LARGE1 NM_004737.6(LARGE1):c.*499G>A SNV Uncertain significance 341425 rs886057458 GRCh37: 22:33669914-33669914
GRCh38: 22:33273928-33273928
55 LARGE1 NM_004737.6(LARGE1):c.-406C>A SNV Uncertain significance 341451 rs886057467 GRCh37: 22:34316243-34316243
GRCh38: 22:33920255-33920255
56 LARGE1 NM_004737.6(LARGE1):c.*849C>T SNV Uncertain significance 341416 rs149508241 GRCh37: 22:33669564-33669564
GRCh38: 22:33273578-33273578
57 LARGE1 NM_004737.6(LARGE1):c.-543C>T SNV Uncertain significance 341456 rs886057469 GRCh37: 22:34316380-34316380
GRCh38: 22:33920392-33920392
58 LARGE1 NM_004737.6(LARGE1):c.*798G>A SNV Uncertain significance 341419 rs778063005 GRCh37: 22:33669615-33669615
GRCh38: 22:33273629-33273629
59 LARGE1 NM_004737.6(LARGE1):c.2208G>A (p.Gln736=) SNV Uncertain significance 341431 rs759427879 GRCh37: 22:33670476-33670476
GRCh38: 22:33274490-33274490
60 LARGE1 NM_004737.6(LARGE1):c.-334G>A SNV Uncertain significance 341447 rs185068235 GRCh37: 22:34316171-34316171
GRCh38: 22:33920183-33920183
61 LARGE1 NM_004737.6(LARGE1):c.857G>A (p.Arg286His) SNV Uncertain significance 341435 rs200035534 GRCh37: 22:33828182-33828182
GRCh38: 22:33432196-33432196
62 LARGE1 NM_004737.6(LARGE1):c.-544G>T SNV Uncertain significance 341457 rs537756491 GRCh37: 22:34316381-34316381
GRCh38: 22:33920393-33920393
63 LARGE1 NM_004737.6(LARGE1):c.506A>G (p.His169Arg) SNV Uncertain significance 341436 rs886057461 GRCh37: 22:34000530-34000530
GRCh38: 22:33604544-33604544
64 LARGE1 NM_004737.6(LARGE1):c.26G>A (p.Arg9Gln) SNV Uncertain significance 341439 rs763697782 GRCh37: 22:34157438-34157438
GRCh38: 22:33761451-33761451
65 LARGE1 NM_004737.6(LARGE1):c.*501T>C SNV Uncertain significance 341424 rs886057457 GRCh37: 22:33669912-33669912
GRCh38: 22:33273926-33273926
66 LARGE1 NM_004737.6(LARGE1):c.*455C>T SNV Uncertain significance 341427 rs886057460 GRCh37: 22:33669958-33669958
GRCh38: 22:33273972-33273972
67 LARGE1 NM_004737.6(LARGE1):c.178C>T (p.Arg60Trp) SNV Uncertain significance 341437 rs142135345 GRCh37: 22:34046583-34046583
GRCh38: 22:33650597-33650597
68 LARGE1 NM_004737.6(LARGE1):c.-355G>C SNV Uncertain significance 341450 rs886057466 GRCh37: 22:34316192-34316192
GRCh38: 22:33920204-33920204
69 LARGE1 NM_004737.6(LARGE1):c.1287C>T (p.Asn429=) SNV Uncertain significance 341434 rs561439887 GRCh37: 22:33733632-33733632
GRCh38: 22:33337646-33337646
70 LARGE1 NM_004737.6(LARGE1):c.1413C>A (p.Ser471Arg) SNV Uncertain significance 579774 rs376160270 GRCh37: 22:33712109-33712109
GRCh38: 22:33316123-33316123
71 LARGE1 NM_133642.5(LARGE1):c.227A>C (p.Asn76Thr) SNV Uncertain significance 902996 GRCh37: 22:34046534-34046534
GRCh38: 22:33650548-33650548
72 LARGE1 NM_133642.5(LARGE1):c.1553A>C (p.Gln518Pro) SNV Uncertain significance 1029890 GRCh37: 22:33700392-33700392
GRCh38: 22:33304406-33304406
73 LARGE1 NM_133642.5(LARGE1):c.2228G>A (p.Gly743Asp) SNV Uncertain significance 1029891 GRCh37: 22:33670456-33670456
GRCh38: 22:33274470-33274470
74 LARGE1 NM_004737.6(LARGE1):c.941A>T (p.Gln314Leu) SNV Uncertain significance 586123 rs149747266 GRCh37: 22:33780242-33780242
GRCh38: 22:33384256-33384256
75 LARGE1 NM_133642.5(LARGE1):c.1612G>A (p.Gly538Ser) SNV Uncertain significance 1032932 GRCh37: 22:33700333-33700333
GRCh38: 22:33304347-33304347
76 LARGE1 NM_004737.6(LARGE1):c.1644C>T (p.Asn548=) SNV Uncertain significance 95167 rs113253213 GRCh37: 22:33700301-33700301
GRCh38: 22:33304315-33304315
77 LARGE1 NM_004737.6(LARGE1):c.1599C>T (p.Ile533=) SNV Uncertain significance 211369 rs12627793 GRCh37: 22:33700346-33700346
GRCh38: 22:33304360-33304360
78 LARGE1 NM_004737.6(LARGE1):c.1788G>A (p.Ala596=) SNV Uncertain significance 167250 rs74550830 GRCh37: 22:33679277-33679277
GRCh38: 22:33283291-33283291
79 LARGE1 NM_004737.6(LARGE1):c.211G>A (p.Glu71Lys) SNV Uncertain significance 158807 rs116164106 GRCh37: 22:34046550-34046550
GRCh38: 22:33650564-33650564
80 LARGE1 NM_004737.6(LARGE1):c.211G>A (p.Glu71Lys) SNV Uncertain significance 158807 rs116164106 GRCh37: 22:34046550-34046550
GRCh38: 22:33650564-33650564
81 LARGE1 NM_004737.6(LARGE1):c.1420G>A (p.Val474Ile) SNV Uncertain significance 95164 rs150861748 GRCh37: 22:33712102-33712102
GRCh38: 22:33316116-33316116
82 LARGE1 NM_004737.6(LARGE1):c.1420G>A (p.Val474Ile) SNV Uncertain significance 95164 rs150861748 GRCh37: 22:33712102-33712102
GRCh38: 22:33316116-33316116
83 LARGE1 NM_004737.6(LARGE1):c.251G>C (p.Ser84Thr) SNV Likely benign 95173 rs398124184 GRCh37: 22:34046510-34046510
GRCh38: 22:33650524-33650524
84 LARGE1 NM_004737.6(LARGE1):c.1994G>A (p.Arg665His) SNV Likely benign 95171 rs1046166 GRCh37: 22:33673125-33673125
GRCh38: 22:33277139-33277139
85 LARGE1 NM_004737.6(LARGE1):c.1548C>T (p.Tyr516=) SNV Likely benign 95166 rs34292743 GRCh37: 22:33700397-33700397
GRCh38: 22:33304411-33304411
86 LARGE1 NM_004737.6(LARGE1):c.1878-11G>T SNV Likely benign 516143 rs200819807 GRCh37: 22:33673252-33673252
GRCh38: 22:33277266-33277266
87 LARGE1 NM_004737.6(LARGE1):c.309C>T (p.Ser103=) SNV Likely benign 95174 rs59349720 GRCh37: 22:34046452-34046452
GRCh38: 22:33650466-33650466
88 LARGE1 NM_004737.6(LARGE1):c.*796C>T SNV Likely benign 341420 rs144150303 GRCh37: 22:33669617-33669617
GRCh38: 22:33273631-33273631
89 LARGE1 NM_004737.6(LARGE1):c.*1235A>G SNV Likely benign 341411 rs1801820 GRCh37: 22:33669178-33669178
GRCh38: 22:33273192-33273192
90 LARGE1 NM_004737.6(LARGE1):c.163A>G (p.Thr55Ala) SNV Likely benign 341438 rs34642406 GRCh37: 22:34046598-34046598
GRCh38: 22:33650612-33650612
91 LARGE1 NM_004737.6(LARGE1):c.1776G>T (p.Met592Ile) SNV Likely benign 283538 rs576967464 GRCh37: 22:33679289-33679289
GRCh38: 22:33283303-33283303
92 LARGE1 NM_004737.6(LARGE1):c.1008T>C (p.Asp336=) SNV Benign 158804 rs115076367 GRCh37: 22:33778028-33778028
GRCh38: 22:33382042-33382042
93 LARGE1 NM_004737.6(LARGE1):c.-460C>G SNV Benign 341453 rs114106875 GRCh37: 22:34316297-34316297
GRCh38: 22:33920309-33920309
94 LARGE1 NM_004737.6(LARGE1):c.-63C>T SNV Benign 138075 rs16992986 GRCh37: 22:34157526-34157526
GRCh38: 22:33761539-33761539
95 LARGE1 NM_004737.6(LARGE1):c.*740A>G SNV Benign 341422 rs116335813 GRCh37: 22:33669673-33669673
GRCh38: 22:33273687-33273687
96 LARGE1 NM_004737.6(LARGE1):c.*921C>G SNV Benign 341414 rs16992034 GRCh37: 22:33669492-33669492
GRCh38: 22:33273506-33273506
97 LARGE1 NM_004737.6(LARGE1):c.-212G>C SNV Benign 341443 rs143403352 GRCh37: 22:34316049-34316049
GRCh38: 22:33920061-33920061
98 LARGE1 NM_004737.6(LARGE1):c.-240C>T SNV Benign 341444 rs3210587 GRCh37: 22:34316077-34316077
GRCh38: 22:33920089-33920089
99 LARGE1 NM_004737.6(LARGE1):c.*207G>A SNV Benign 341428 rs16992036 GRCh37: 22:33670206-33670206
GRCh38: 22:33274220-33274220
100 LARGE1 NM_004737.6(LARGE1):c.*1201A>G SNV Benign 341412 rs11544101 GRCh37: 22:33669212-33669212
GRCh38: 22:33273226-33273226
101 LARGE1 NM_004737.6(LARGE1):c.*856G>A SNV Benign 341415 rs77663505 GRCh37: 22:33669557-33669557
GRCh38: 22:33273571-33273571
102 LARGE1 NM_004737.6(LARGE1):c.*154C>A SNV Benign 341429 rs73399512 GRCh37: 22:33670259-33670259
GRCh38: 22:33274273-33274273
103 LARGE1 NM_004737.6(LARGE1):c.-121G>C SNV Benign 341441 rs114574565 GRCh37: 22:34252766-34252766
GRCh38: 22:33856778-33856778
104 LARGE1 NM_004737.6(LARGE1):c.-136T>G SNV Benign 379184 rs147343461 GRCh37: 22:34252781-34252781
GRCh38: 22:33856793-33856793
105 LARGE1 NM_004737.6(LARGE1):c.552G>A (p.Thr184=) SNV Benign 158808 rs8142483 GRCh37: 22:34000484-34000484
GRCh38: 22:33604498-33604498
106 LARGE1 NM_004737.6(LARGE1):c.2100C>T (p.Asn700=) SNV Benign 95172 rs17722172 GRCh37: 22:33670584-33670584
GRCh38: 22:33274598-33274598
107 LARGE1 NM_004737.6(LARGE1):c.435C>T (p.Ala145=) SNV Benign 95175 rs86487 GRCh37: 22:34022284-34022284
GRCh38: 22:33626300-33626300
108 LARGE1 NM_004737.6(LARGE1):c.1827A>G (p.Ser609=) SNV Benign 95169 rs11913417 GRCh37: 22:33679238-33679238
GRCh38: 22:33283252-33283252
109 LARGE1 NM_004737.6(LARGE1):c.-31G>A SNV Benign 95159 rs117199378 GRCh37: 22:34157494-34157494
GRCh38: 22:33761507-33761507
110 LARGE1 NM_004737.6(LARGE1):c.576C>T (p.Pro192=) SNV Benign 95176 rs36002910 GRCh37: 22:34000460-34000460
GRCh38: 22:33604474-33604474
111 LARGE1 NM_004737.6(LARGE1):c.1949G>A (p.Arg650Gln) SNV Benign 95170 rs73399520 GRCh37: 22:33673170-33673170
GRCh38: 22:33277184-33277184
112 LARGE1 NM_004737.6(LARGE1):c.165G>C (p.Thr55=) SNV Benign 158805 rs63446460 GRCh37: 22:34046596-34046596
GRCh38: 22:33650610-33650610

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

72 (showing 3, show less)
# Symbol AA change Variation ID SNP ID
1 LARGE1 p.Ser331Phe VAR_065064 rs267607210
2 LARGE1 p.Trp495Arg VAR_065065 rs267607209
3 LARGE1 p.Cys443Tyr VAR_075304

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 6.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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32 ICD10
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51 NDF-RT
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
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68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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