NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) AND Charcot-Marie-Tooth Neuropathy X Type 1

Clinical significance:Pathogenic (Last evaluated: Apr 15, 2010)

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:
RCV000020170.2

Allele description [Variation Report for NM_000166.6(GJB1):c.145T>C (p.Ser49Pro)]

NM_000166.6(GJB1):c.145T>C (p.Ser49Pro)

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.145T>C (p.Ser49Pro)
HGVS:
  • NC_000023.11:g.71223852T>C
  • NG_008357.1:g.13641T>C
  • NM_000166.6:c.145T>CMANE SELECT
  • NM_001097642.2:c.145T>C
  • NM_001097642.3:c.145T>C
  • NP_000157.1:p.Ser49Pro
  • NP_001091111.1:p.Ser49Pro
  • NP_001091111.1:p.Ser49Pro
  • LRG_245t1:c.145T>C
  • LRG_245t2:c.145T>C
  • LRG_245:g.13641T>C
  • LRG_245p1:p.Ser49Pro
  • LRG_245p2:p.Ser49Pro
  • NC_000023.10:g.70443702T>C
  • NM_000166.5:c.145T>C
  • P08034:p.Ser49Pro
Protein change:
S49P
Links:
UniProtKB: P08034#VAR_029907; dbSNP: rs116840817
NCBI 1000 Genomes Browser:
rs116840817
Molecular consequence:
  • NM_000166.6:c.145T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.2:c.145T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.145T>C - 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
SCV000040498GeneReviewsno assertion criteria providedpathologic
(Apr 15, 2010)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000040498.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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