NM_000166.6(GJB1):c.439del (p.Ala147fs) 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:
RCV000789898.1

Allele description [Variation Report for NM_000166.6(GJB1):c.439del (p.Ala147fs)]

NM_000166.6(GJB1):c.439del (p.Ala147fs)

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.439del (p.Ala147fs)
HGVS:
  • NC_000023.11:g.71224146del
  • NG_008357.1:g.13935del
  • NM_000166.6:c.439delMANE SELECT
  • NM_001097642.3:c.439del
  • NP_000157.1:p.Ala147fs
  • NP_001091111.1:p.Ala147fs
  • LRG_245t2:c.439del
  • LRG_245:g.13935del
  • LRG_245p2:p.Ala147fs
  • NC_000023.10:g.70443996del
  • NM_000166.5:c.439delG
Protein change:
A147fs
Links:
dbSNP: rs1602349352
NCBI 1000 Genomes Browser:
rs1602349352
Molecular consequence:
  • NM_000166.6:c.439del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001097642.3:c.439del - 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
SCV000929283Inherited 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

The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.

Meggouh F, Benomar A, Rouger H, Tardieu S, Birouk N, Tassin J, Barhoumi C, Yahyaoui M, Chkili T, Brice A, LeGuern E.

J Med Genet. 1998 Mar;35(3):251-2.

PubMed [citation]
PMID:
9541114
PMCID:
PMC1051253

Details of each submission

From Inherited Neuropathy Consortium, SCV000929283.1

#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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