NM_000166.6(GJB1):c.77del (p.Ser26fs) 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:
RCV000789881.1

Allele description [Variation Report for NM_000166.6(GJB1):c.77del (p.Ser26fs)]

NM_000166.6(GJB1):c.77del (p.Ser26fs)

Gene:
GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_000166.6(GJB1):c.77del (p.Ser26fs)
HGVS:
  • NC_000023.11:g.71223784del
  • NG_008357.1:g.13573del
  • NM_000166.6:c.77delMANE SELECT
  • NM_001097642.3:c.77del
  • NP_000157.1:p.Ser26fs
  • NP_001091111.1:p.Ser26fs
  • LRG_245t2:c.77del
  • LRG_245:g.13573del
  • LRG_245p2:p.Ser26fs
  • NC_000023.10:g.70443634del
  • NM_000166.5:c.77delC
Protein change:
S26fs
Links:
dbSNP: rs1602348679
NCBI 1000 Genomes Browser:
rs1602348679
Molecular consequence:
  • NM_000166.6:c.77del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001097642.3:c.77del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000929266Inherited 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

X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.

Kim Y, Choi KG, Park KD, Lee KS, Chung KW, Choi BO.

Clin Genet. 2012 Feb;81(2):142-9. doi: 10.1111/j.1399-0004.2011.01642.x. Epub 2011 Mar 1.

PubMed [citation]
PMID:
21291455

Details of each submission

From Inherited Neuropathy Consortium, SCV000929266.1

#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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