NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) AND Charcot-Marie-Tooth Neuropathy X Type 1

Clinical significance:Pathogenic

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:
RCV000143796.1

Allele description [Variation Report for NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)]

NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)

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.790C>T (p.Arg264Cys)
HGVS:
  • NC_000023.11:g.71224497C>T
  • NG_008357.1:g.14286C>T
  • NM_000166.6:c.790C>TMANE SELECT
  • NM_001097642.3:c.790C>T
  • NP_000157.1:p.Arg264Cys
  • NP_001091111.1:p.Arg264Cys
  • LRG_245t2:c.790C>T
  • LRG_245:g.14286C>T
  • LRG_245p2:p.Arg264Cys
  • NC_000023.10:g.70444347C>T
  • NM_000166.5:c.790C>T
  • P08034:p.Arg264Cys
Protein change:
R264C
Links:
UniProtKB: P08034#VAR_029956; dbSNP: rs587777879
NCBI 1000 Genomes Browser:
rs587777879
Molecular consequence:
  • NM_000166.6:c.790C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.790C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000188688Northcott Neuroscience Laboratory, ANZAC Research Instituteno assertion criteria providedpathogenicgermlinenot provided

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

Description

Family F

SCV000188688

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.

Numakura C, Lin C, Ikegami T, Guldberg P, Hayasaka K.

Hum Mutat. 2002 Nov;20(5):392-8.

PubMed [citation]
PMID:
12402337

Details of each submission

From Northcott Neuroscience Laboratory, ANZAC Research Institute, SCV000188688.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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