NM_000166.6(GJB1):c.278T>G (p.Met93Arg) 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:
RCV000789322.1

Allele description [Variation Report for NM_000166.6(GJB1):c.278T>G (p.Met93Arg)]

NM_000166.6(GJB1):c.278T>G (p.Met93Arg)

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.278T>G (p.Met93Arg)
HGVS:
  • NC_000023.11:g.71223985T>G
  • NG_008357.1:g.13774T>G
  • NM_000166.6:c.278T>GMANE SELECT
  • NM_001097642.3:c.278T>G
  • NP_000157.1:p.Met93Arg
  • NP_001091111.1:p.Met93Arg
  • LRG_245t2:c.278T>G
  • LRG_245:g.13774T>G
  • LRG_245p2:p.Met93Arg
  • NC_000023.10:g.70443835T>G
  • NM_000166.5:c.278T>G
Protein change:
M93R
Links:
dbSNP: rs1602349077
NCBI 1000 Genomes Browser:
rs1602349077
Molecular consequence:
  • NM_000166.6:c.278T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.278T>G - 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
SCV000928675Inherited 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

Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report.

Zhao Y, Xie Y, Zhu X, Wang H, Li Y, Li J.

BMC Neurol. 2014 Aug 3;14:156. doi: 10.1186/s12883-014-0156-5.

PubMed [citation]
PMID:
25086786
PMCID:
PMC4131157

Details of each submission

From Inherited Neuropathy Consortium, SCV000928675.1

#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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