NM_000166.6(GJB1):c.542T>C (p.Val181Ala) AND Charcot-Marie-Tooth disease

Clinical significance:Uncertain significance

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:
RCV000789797.1

Allele description [Variation Report for NM_000166.6(GJB1):c.542T>C (p.Val181Ala)]

NM_000166.6(GJB1):c.542T>C (p.Val181Ala)

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.542T>C (p.Val181Ala)
HGVS:
  • NC_000023.11:g.71224249T>C
  • NG_008357.1:g.14038T>C
  • NM_000166.6:c.542T>CMANE SELECT
  • NM_001097642.3:c.542T>C
  • NP_000157.1:p.Val181Ala
  • NP_001091111.1:p.Val181Ala
  • LRG_245t2:c.542T>C
  • LRG_245:g.14038T>C
  • LRG_245p2:p.Val181Ala
  • NC_000023.10:g.70444099T>C
  • NM_000166.5:c.542T>C
Protein change:
V181A
Links:
dbSNP: rs876661252
NCBI 1000 Genomes Browser:
rs876661252
Molecular consequence:
  • NM_000166.6:c.542T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.542T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000929181Inherited Neuropathy Consortiumno assertion criteria providedUncertain significancegermlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32.

Abrams CK, Freidin M, Bukauskas F, Dobrenis K, Bargiello TA, Verselis VK, Bennett MV, Chen L, Sahenk Z.

J Neurosci. 2003 Nov 19;23(33):10548-58.

PubMed [citation]
PMID:
14627639
PMCID:
PMC4513672

Details of each submission

From Inherited Neuropathy Consortium, SCV000929181.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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