NM_000166.6(GJB1):c.397T>C (p.Trp133Arg) AND Charcot-Marie-Tooth disease X-linked dominant 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 1, 1995
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000011179.2

Allele description [Variation Report for NM_000166.6(GJB1):c.397T>C (p.Trp133Arg)]

NM_000166.6(GJB1):c.397T>C (p.Trp133Arg)

Gene:

GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_000166.6(GJB1):c.397T>C (p.Trp133Arg)

HGVS:

NC_000023.11:g.71224104T>C
NG_008357.1:g.13893T>C
NM_000166.6:c.397T>CMANE SELECT
NM_001097642.3:c.397T>C
NP_000157.1:p.Trp133Arg
NP_001091111.1:p.Trp133Arg
LRG_245t2:c.397T>C
LRG_245:g.13893T>C
LRG_245p2:p.Trp133Arg
NC_000023.10:g.70443954T>C
P08034:p.Trp133Arg

Protein change:

W133R; TRP133ARG

Links:

UniProtKB: P08034#VAR_002081; OMIM: 304040.0004; dbSNP: rs104894813

NCBI 1000 Genomes Browser:

rs104894813

Molecular consequence:

NM_000166.6:c.397T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001097642.3:c.397T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease X-linked dominant 1
Synonyms:: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1; CMTX 1; Charcot-Marie-Tooth peroneal muscular atrophy, X-linked; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010549; MedGen: C0393808; Orphanet: 101075; OMIM: 302800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031406	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 1995)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031406

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 1995)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.

Bone LJ, Dahl N, Lensch MW, Chance PF, Kelly T, Le Guern E, Magi S, Parry G, Shapiro H, Wang S, et al.

Neurology. 1995 Oct;45(10):1863-6.

PubMed [citation]

PMID:: 7477983

Details of each submission

From OMIM, SCV000031406.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a family with X-linked Charcot-Marie-Tooth disease (302800), Bone et al. (1995) found a T-to-C transition in codon 133 of the CX32 gene, resulting in a substitution of arginine for tryptophan.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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