CMT2R
MCID: CHR671
MIFTS: 37

Charcot-Marie-Tooth Disease, Axonal, Type 2r (CMT2R)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Type 2r

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Type 2r:

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2r 57 29 6 39 70
Cmt2r 57 12 20 58 72
Charcot-Marie-Tooth Disease Type 2r 12 20 58 15
Charcot-Marie-Tooth Neuropathy, Type 2r 57 20 72
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r 57 20
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r 12
Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r 72
Charcot-Marie-Tooth Neuropathy Axonal Type 2r 72
Charcot-Marie-Tooth Disease Axonal Type 2r 72
Charcot-Marie-Tooth Neuropathy Type 2r 12
Charcot-Marie-Tooth Disease, Type 2r 57
Charcot-Marie-Tooth Disease 2r 72

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 2r
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

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

Miscellaneous:
onset in early childhood
two unrelated patients have been reported (last curated july 2015)
patient b had a more severe phenotype


HPO:

31
charcot-marie-tooth disease, axonal, type 2r:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110161
OMIM® 57 615490
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA397968
UMLS 70 C3809655

Summaries for Charcot-Marie-Tooth Disease, Axonal, Type 2r

UniProtKB/Swiss-Prot : 72 Charcot-Marie-Tooth disease 2R: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2r, also known as cmt2r, is related to charcot-marie-tooth disease, axonal, type 2a1 and charcot-marie-tooth disease, axonal, type 2k. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2r is TRIM2 (Tripartite Motif Containing 2). Related phenotypes are muscle weakness and respiratory insufficiency

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.

More information from OMIM: 615490 PS118220

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Type 2r

Diseases in the Charcot-Marie-Tooth Disease, Axonal, Type 2e family:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b
Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a
Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o
Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2u
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z
Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2t
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Charcot-Marie-Tooth Disease, Axonal, Type 2ee Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2r via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2a1 10.2 LRSAM1 GDAP1
2 charcot-marie-tooth disease, axonal, type 2k 10.2 GDAP1 DNAJB2
3 neuropathy, hereditary sensory, type iic 10.1 SPG21 MTRFR
4 spastic paraplegia 63, autosomal recessive 10.1 SPG21 MTRFR
5 spastic paraplegia 29, autosomal dominant 10.1 ZFYVE26 SPG21
6 spastic paraplegia 25, autosomal recessive 10.1 ZFYVE26 SPG21
7 spastic paraplegia 19, autosomal dominant 10.1 ZFYVE26 SPG21
8 hereditary spastic paraplegia 23 10.1 ZFYVE26 SPG21
9 spastic paraplegia 37, autosomal dominant 10.1 ZFYVE26 SPG21
10 spastic paraplegia 34, x-linked 10.1 ZFYVE26 SPG21
11 hereditary spastic paraplegia 51 10.1 ZFYVE26 SPG21
12 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive 10.1 LRSAM1 GDAP1
13 spastic paraplegia 64, autosomal recessive 10.1 ZFYVE26 SPG21
14 spastic paraplegia 52, autosomal recessive 10.1 ZFYVE26 SPG21
15 spastic paraplegia 50, autosomal recessive 10.1 ZFYVE26 SPG21
16 spastic paraplegia 61, autosomal recessive 10.1 ZFYVE26 SPG21
17 charcot-marie-tooth disease, demyelinating, type 1c 10.1 LRSAM1 GDAP1
18 spastic paraplegia 33, autosomal dominant 10.1 ZFYVE26 SPG21
19 spastic paraplegia 18, autosomal recessive 10.1 ZFYVE26 SPG21
20 spastic paraplegia 54, autosomal recessive 10.0 SPG21 CYP2U1
21 spastic paraplegia 11, autosomal recessive 10.0 ZFYVE26 SPG21
22 charcot-marie-tooth disease intermediate type 10.0 LRSAM1 GDAP1 DNAJB2
23 spastic paraplegia 12, autosomal dominant 10.0 ZFYVE26 SPG21
24 spastic paraplegia 39, autosomal recessive 10.0 ZFYVE26 SPG21
25 spastic paraplegia 6, autosomal dominant 10.0 ZFYVE26 SPG21
26 spastic paraplegia 31, autosomal dominant 10.0 ZFYVE26 SPG21
27 spastic paraplegia 15, autosomal recessive 10.0 ZFYVE26 SPG21
28 spastic paraplegia 47, autosomal recessive 10.0 ZFYVE26 SPG21
29 spastic paraplegia 35, autosomal recessive 10.0 ZFYVE26 SPG21
30 spastic paraplegia 20, autosomal recessive 10.0 ZFYVE26 SPG21
31 charcot-marie-tooth disease, axonal, type 2b1 10.0 SPG21 LRSAM1 GDAP1
32 spastic paraplegia 8, autosomal dominant 10.0 ZFYVE26 SPG21
33 spastic paraplegia 10, autosomal dominant 10.0 ZFYVE26 SPG21
34 spastic paraplegia 4, autosomal dominant 10.0 ZFYVE26 SPG21
35 neuronopathy, distal hereditary motor, type va 9.9 GDAP1 DNAJB2
36 spastic paraplegia 17, autosomal dominant 9.9 ZFYVE26 SPG21
37 spastic paraplegia 2, x-linked 9.9 ZFYVE26 SPG21
38 masa syndrome 9.8 ZFYVE26 SPG21 MTRFR
39 spastic paraplegia 49, autosomal recessive 9.8 ZFYVE26 SPG21 CYP2U1
40 spastic paraplegia 46, autosomal recessive 9.8 ZFYVE26 SPG21 CYP2U1
41 axonal hereditary motor and sensory neuropathy 9.8 SLC12A6 COX6A1
42 spastic paraplegia 48, autosomal recessive 9.8 ZFYVE26 SPG21 CYP2U1
43 spastic paraplegia 56, autosomal recessive 9.8 ZFYVE26 SPG21 CYP2U1
44 tooth disease 9.7 TRIM2 LRSAM1 GDAP1 COX6A1
45 axonal neuropathy 9.7 ZFYVE26 TRIM2 MTRFR GDAP1
46 motor peripheral neuropathy 9.7 ZFYVE26 SLC12A6 DNAJB2
47 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.6 SLC12A6 LRSAM1 GDAP1
48 paraplegia 9.6 ZFYVE26 SPG21 MTRFR CYP2U1
49 hereditary spastic paraplegia 9.6 ZFYVE26 SPG21 MTRFR CYP2U1
50 sensory peripheral neuropathy 9.6 SLC12A6 GDAP1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2r:



Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2r

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Type 2r

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2r:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 respiratory insufficiency 31 HP:0002093
3 decreased muscle mass 31 HP:0003199
4 vocal cord paralysis 31 HP:0001605
5 talipes equinovarus 31 HP:0001762
6 areflexia 31 HP:0001284
7 pes cavus 31 HP:0001761
8 tracheomalacia 31 HP:0002779
9 broad-based gait 31 HP:0002136
10 knee flexion contracture 31 HP:0006380
11 generalized hypotonia 31 HP:0001290
12 inability to walk 31 HP:0002540
13 peripheral axonal neuropathy 31 HP:0003477
14 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
15 axonal degeneration 31 HP:0040078
16 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
decreased muscle mass
hypotonia, generalized
atrophy of the small muscles in the hands and feet

Skeletal Feet:
pes cavus
pes equinovarus

Growth Other:
slight build (patient a)

Respiratory Larynx:
tracheomalacia (patient b)
vocal cord paralysis (patient b)

Neurologic Peripheral Nervous System:
areflexia
broad-based gait
peripheral axonal neuropathy
inability to walk on heels
loss of myelinated fibers
more
Neurologic Central Nervous System:
delayed walking

Respiratory:
respiratory insufficiency (patient b)

Skeletal Limbs:
knee contractures (patient b)

Clinical features from OMIM®:

615490 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2r:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.61 COX6A1 CYP2U1 DNAJB2 GDAP1 LRSAM1 SLC12A6
2 nervous system MP:0003631 9.17 COX6A1 GDAP1 LRSAM1 SLC12A6 SPG21 TRIM2

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Type 2r

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Type 2r

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Type 2r

Genetic tests related to Charcot-Marie-Tooth Disease, Axonal, Type 2r:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Axonal, Type 2r 29 TRIM2

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Type 2r

Publications for Charcot-Marie-Tooth Disease, Axonal, Type 2r

Articles related to Charcot-Marie-Tooth Disease, Axonal, Type 2r:

# Title Authors PMID Year
1
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. 6 57
25893792 2015
2
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. 6 57
23562820 2013
3
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 6
26257172 2015
4
Deficiency in ubiquitin ligase TRIM2 causes accumulation of neurofilament light chain and neurodegeneration. 57
18687884 2008
5
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 61
26556829 2016

Variations for Charcot-Marie-Tooth Disease, Axonal, Type 2r

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2r:

6 (show top 50) (show all 123)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRIM2 NM_015271.5(TRIM2):c.797C>A (p.Ser266Ter) SNV Pathogenic 580197 rs746386202 GRCh37: 4:154216475-154216475
GRCh38: 4:153295323-153295323
2 TRIM2 NM_015271.5(TRIM2):c.761A>T (p.Glu254Val) SNV Pathogenic 83303 rs587777063 GRCh37: 4:154215612-154215612
GRCh38: 4:153294460-153294460
3 TRIM2 NM_015271.5(TRIM2):c.1781del (p.Lys594fs) Deletion Pathogenic 83304 rs587777838 GRCh37: 4:154237149-154237149
GRCh38: 4:153315997-153315997
4 TRIM2 NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala) SNV Likely pathogenic 243075 rs879253863 GRCh37: 4:154245278-154245278
GRCh38: 4:153324126-153324126
5 TRIM2 NM_015271.5(TRIM2):c.1964C>A (p.Ala655Glu) SNV Uncertain significance 474607 rs1554002777 GRCh37: 4:154245242-154245242
GRCh38: 4:153324090-153324090
6 TRIM2 NM_015271.5(TRIM2):c.251C>T (p.Thr84Ile) SNV Uncertain significance 474606 rs745985238 GRCh37: 4:154197080-154197080
GRCh38: 4:153275928-153275928
7 TRIM2 NM_015271.5(TRIM2):c.1673G>A (p.Gly558Glu) SNV Uncertain significance 474603 rs1305793582 GRCh37: 4:154237042-154237042
GRCh38: 4:153315890-153315890
8 TRIM2 NM_015271.5(TRIM2):c.659T>C (p.Leu220Ser) SNV Uncertain significance 474612 rs759938444 GRCh37: 4:154215510-154215510
GRCh38: 4:153294358-153294358
9 TRIM2 NM_015271.5(TRIM2):c.1083G>T (p.Gly361=) SNV Uncertain significance 541511 rs779795369 GRCh37: 4:154216761-154216761
GRCh38: 4:153295609-153295609
10 TRIM2 NM_015271.5(TRIM2):c.1876G>A (p.Val626Met) SNV Uncertain significance 541512 rs759524701 GRCh37: 4:154243893-154243893
GRCh38: 4:153322741-153322741
11 TRIM2 NM_015271.5(TRIM2):c.1835G>A (p.Arg612His) SNV Uncertain significance 541515 rs114415780 GRCh37: 4:154243852-154243852
GRCh38: 4:153322700-153322700
12 TRIM2 NM_015271.5(TRIM2):c.568G>A (p.Ala190Thr) SNV Uncertain significance 941240 GRCh37: 4:154214248-154214248
GRCh38: 4:153293096-153293096
13 TRIM2 NM_015271.5(TRIM2):c.2197A>G (p.Ile733Val) SNV Uncertain significance 474608 rs201921014 GRCh37: 4:154255999-154255999
GRCh38: 4:153334847-153334847
14 TRIM2 NM_015271.5(TRIM2):c.756A>C (p.Glu252Asp) SNV Uncertain significance 541514 rs138228404 GRCh37: 4:154215607-154215607
GRCh38: 4:153294455-153294455
15 TRIM2 NM_015271.5(TRIM2):c.1043C>G (p.Thr348Ser) SNV Uncertain significance 582449 rs752113810 GRCh37: 4:154216721-154216721
GRCh38: 4:153295569-153295569
16 TRIM2 NM_015271.5(TRIM2):c.210C>T (p.Cys70=) SNV Uncertain significance 640153 rs750120043 GRCh37: 4:154191666-154191666
GRCh38: 4:153270514-153270514
17 TRIM2 NM_015271.5(TRIM2):c.346G>A (p.Val116Met) SNV Uncertain significance 618441 rs763365056 GRCh37: 4:154197175-154197175
GRCh38: 4:153276023-153276023
18 TRIM2 NM_015271.5(TRIM2):c.2265G>A (p.Val755=) SNV Uncertain significance 838972 GRCh37: 4:154256067-154256067
GRCh38: 4:153334915-153334915
19 TRIM2 NM_015271.5(TRIM2):c.388A>G (p.Ile130Val) SNV Uncertain significance 845153 GRCh37: 4:154197217-154197217
GRCh38: 4:153276065-153276065
20 TRIM2 NM_015271.5(TRIM2):c.605+6G>A SNV Uncertain significance 851260 GRCh37: 4:154214291-154214291
GRCh38: 4:153293139-153293139
21 TRIM2 NM_015271.5(TRIM2):c.1451T>A (p.Met484Lys) SNV Uncertain significance 852005 GRCh37: 4:154217129-154217129
GRCh38: 4:153295977-153295977
22 TRIM2 NM_015271.5(TRIM2):c.520G>T (p.Ala174Ser) SNV Uncertain significance 855965 GRCh37: 4:154214200-154214200
GRCh38: 4:153293048-153293048
23 TRIM2 NM_015271.5(TRIM2):c.417G>A (p.Ala139=) SNV Uncertain significance 859978 GRCh37: 4:154197246-154197246
GRCh38: 4:153276094-153276094
24 TRIM2 NM_015271.5(TRIM2):c.1028G>C (p.Gly343Ala) SNV Uncertain significance 935061 GRCh37: 4:154216706-154216706
GRCh38: 4:153295554-153295554
25 TRIM2 NM_015271.5(TRIM2):c.1243A>G (p.Thr415Ala) SNV Uncertain significance 937687 GRCh37: 4:154216921-154216921
GRCh38: 4:153295769-153295769
26 TRIM2 NM_015271.5(TRIM2):c.561G>T (p.Gln187His) SNV Uncertain significance 941206 GRCh37: 4:154214241-154214241
GRCh38: 4:153293089-153293089
27 TRIM2 NM_015271.5(TRIM2):c.1746A>G (p.Lys582=) SNV Uncertain significance 953829 GRCh37: 4:154237115-154237115
GRCh38: 4:153315963-153315963
28 TRIM2 NM_015271.5(TRIM2):c.320A>G (p.Asn107Ser) SNV Uncertain significance 967401 GRCh37: 4:154197149-154197149
GRCh38: 4:153275997-153275997
29 TRIM2 NM_015271.5(TRIM2):c.677G>A (p.Ser226Asn) SNV Uncertain significance 580979 rs143032564 GRCh37: 4:154215528-154215528
GRCh38: 4:153294376-153294376
30 TRIM2 NM_015271.5(TRIM2):c.560A>G (p.Gln187Arg) SNV Uncertain significance 640691 rs1579408472 GRCh37: 4:154214240-154214240
GRCh38: 4:153293088-153293088
31 TRIM2 NM_015271.5(TRIM2):c.1671G>A (p.Pro557=) SNV Uncertain significance 641853 rs150231451 GRCh37: 4:154237040-154237040
GRCh38: 4:153315888-153315888
32 TRIM2 NM_015271.5(TRIM2):c.550G>A (p.Val184Met) SNV Uncertain significance 642874 rs1579408437 GRCh37: 4:154214230-154214230
GRCh38: 4:153293078-153293078
33 TRIM2 NM_015271.5(TRIM2):c.485C>A (p.Thr162Asn) SNV Uncertain significance 645248 rs1579407719 GRCh37: 4:154214165-154214165
GRCh38: 4:153293013-153293013
34 TRIM2 NM_015271.5(TRIM2):c.1664G>A (p.Arg555His) SNV Uncertain significance 646320 rs755651013 GRCh37: 4:154237033-154237033
GRCh38: 4:153315881-153315881
35 TRIM2 NM_015271.5(TRIM2):c.959C>T (p.Pro320Leu) SNV Uncertain significance 648706 rs1279083060 GRCh37: 4:154216637-154216637
GRCh38: 4:153295485-153295485
36 TRIM2 NM_015271.5(TRIM2):c.1087C>T (p.Arg363Trp) SNV Uncertain significance 650864 rs768541205 GRCh37: 4:154216765-154216765
GRCh38: 4:153295613-153295613
37 TRIM2 NM_015271.5(TRIM2):c.914G>A (p.Ser305Asn) SNV Uncertain significance 651469 rs1579432032 GRCh37: 4:154216592-154216592
GRCh38: 4:153295440-153295440
38 TRIM2 NM_015271.5(TRIM2):c.328A>G (p.Ile110Val) SNV Uncertain significance 652898 rs1435917917 GRCh37: 4:154197157-154197157
GRCh38: 4:153276005-153276005
39 TRIM2 NM_015271.5(TRIM2):c.167G>A (p.Arg56Gln) SNV Uncertain significance 652907 rs1418080739 GRCh37: 4:154191623-154191623
GRCh38: 4:153270471-153270471
40 TRIM2 NM_015271.5(TRIM2):c.1144G>T (p.Gly382Cys) SNV Uncertain significance 654076 rs760086023 GRCh37: 4:154216822-154216822
GRCh38: 4:153295670-153295670
41 TRIM2 NM_015271.5(TRIM2):c.2049G>A (p.Met683Ile) SNV Uncertain significance 655053 rs1579783522 GRCh37: 4:154249708-154249708
GRCh38: 4:153328556-153328556
42 TRIM2 NM_015271.5(TRIM2):c.1330T>C (p.Phe444Leu) SNV Uncertain significance 655077 rs1579436975 GRCh37: 4:154217008-154217008
GRCh38: 4:153295856-153295856
43 TRIM2 NM_015271.5(TRIM2):c.541C>T (p.Leu181Phe) SNV Uncertain significance 658772 rs754986666 GRCh37: 4:154214221-154214221
GRCh38: 4:153293069-153293069
44 TRIM2 NM_015271.5(TRIM2):c.1646G>A (p.Arg549His) SNV Uncertain significance 661471 rs1579646798 GRCh37: 4:154237015-154237015
GRCh38: 4:153315863-153315863
45 TRIM2 NM_015271.5(TRIM2):c.1793G>T (p.Gly598Val) SNV Uncertain significance 662374 rs780090814 GRCh37: 4:154243810-154243810
GRCh38: 4:153322658-153322658
46 TRIM2 NM_015271.5(TRIM2):c.1838A>G (p.Asn613Ser) SNV Uncertain significance 663082 rs1579720652 GRCh37: 4:154243855-154243855
GRCh38: 4:153322703-153322703
47 TRIM2 NM_015271.5(TRIM2):c.305C>T (p.Ala102Val) SNV Uncertain significance 663879 rs1579254686 GRCh37: 4:154197134-154197134
GRCh38: 4:153275982-153275982
48 TRIM2 NM_015271.5(TRIM2):c.583C>A (p.Gln195Lys) SNV Uncertain significance 1000483 GRCh37: 4:154214263-154214263
GRCh38: 4:153293111-153293111
49 TRIM2 NM_015271.5(TRIM2):c.1196C>A (p.Pro399His) SNV Uncertain significance 1010038 GRCh37: 4:154216874-154216874
GRCh38: 4:153295722-153295722
50 TRIM2 NM_015271.5(TRIM2):c.1094C>G (p.Thr365Ser) SNV Uncertain significance 444644 rs146686472 GRCh37: 4:154216772-154216772
GRCh38: 4:153295620-153295620

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2r:

72
# Symbol AA change Variation ID SNP ID
1 TRIM2 p.Glu227Val VAR_070874 rs587777063

Expression for Charcot-Marie-Tooth Disease, Axonal, Type 2r

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2r.

Pathways for Charcot-Marie-Tooth Disease, Axonal, Type 2r

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Type 2r

Sources for Charcot-Marie-Tooth Disease, Axonal, Type 2r

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