NM_000166.6(GJB1):c.304G>T (p.Glu102Ter) AND Charcot-Marie-Tooth Neuropathy X Type 1

Clinical significance:Pathogenic (Last evaluated: Oct 1, 1999)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000011188.5

Allele description [Variation Report for NM_000166.6(GJB1):c.304G>T (p.Glu102Ter)]

NM_000166.6(GJB1):c.304G>T (p.Glu102Ter)

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.304G>T (p.Glu102Ter)
HGVS:
  • NC_000023.11:g.71224011G>T
  • NG_008357.1:g.13800G>T
  • NM_000166.6:c.304G>TMANE SELECT
  • NM_001097642.3:c.304G>T
  • NP_000157.1:p.Glu102Ter
  • NP_001091111.1:p.Glu102Ter
  • LRG_245t2:c.304G>T
  • LRG_245:g.13800G>T
  • LRG_245p2:p.Glu102Ter
  • NC_000023.10:g.70443861G>T
  • NM_000166.5:c.304G>T
Nucleotide change:
367G-T
Protein change:
E102*
Links:
OMIM: 304040.0013; dbSNP: rs1602349143
NCBI 1000 Genomes Browser:
rs1602349143
Molecular consequence:
  • NM_000166.6:c.304G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001097642.3:c.304G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Charcot-Marie-Tooth Neuropathy X Type 1 (CMTX1)
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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000031415OMIMno assertion criteria providedPathogenic
(Oct 1, 1999)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings.

Tabaraud F, Lagrange E, Sindou P, Vandenberghe A, Levy N, Vallat JM.

Muscle Nerve. 1999 Oct;22(10):1442-7.

PubMed [citation]
PMID:
10487913

Details of each submission

From OMIM, SCV000031415.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 71-year-old woman with X-linked Charcot-Marie-Tooth disease (302800), Tabaraud et al. (1999) identified a truncating mutation, GAG to TAG at nucleotide 367, in the GJB1 gene. The mutation led to termination by a glutamic acid in codon position 102 instead of codon 283 for the normal protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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