NM_000166.6(GJB1):c.429GTT[1] (p.Leu144del) 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:
RCV000789847.1

Allele description [Variation Report for NM_000166.6(GJB1):c.429GTT[1] (p.Leu144del)]

NM_000166.6(GJB1):c.429GTT[1] (p.Leu144del)

Gene:
GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_000166.6(GJB1):c.429GTT[1] (p.Leu144del)
HGVS:
  • NC_000023.11:g.71224136GTT[1]
  • NG_008357.1:g.13925GTT[1]
  • NM_000166.6:c.429GTT[1]MANE SELECT
  • NM_001097642.3:c.429GTT[1]
  • NP_000157.1:p.Leu144del
  • NP_001091111.1:p.Leu144del
  • LRG_245t2:c.429GTT[1]
  • LRG_245:g.13925GTT[1]
  • LRG_245p2:p.Leu144del
  • NC_000023.10:g.70443986GTT[1]
  • NM_000166.5:c.432_434delGTT
Protein change:
L144del
Links:
dbSNP: rs1602349339
NCBI 1000 Genomes Browser:
rs1602349339
Molecular consequence:
  • NM_000166.6:c.429GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001097642.3:c.429GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000929231Inherited 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

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

Fairweather N, Bell C, Cochrane S, Chelly J, Wang S, Mostacciuolo ML, Monaco AP, Haites NE.

Hum Mol Genet. 1994 Jan;3(1):29-34. Erratum in: Hum Mol Genet 1994 Jun;3(6):1034.

PubMed [citation]
PMID:
8162049

Details of each submission

From Inherited Neuropathy Consortium, SCV000929231.1

#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: May 28, 2021

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