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NM_004004.6(GJB2):c.193T>C (p.Tyr65His) AND Mutilating keratoderma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 1997
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000239514.10

Allele description [Variation Report for NM_004004.6(GJB2):c.193T>C (p.Tyr65His)]

NM_004004.6(GJB2):c.193T>C (p.Tyr65His)

Gene:
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_004004.6(GJB2):c.193T>C (p.Tyr65His)
HGVS:
  • NC_000013.11:g.20189389A>G
  • NG_008358.1:g.8587T>C
  • NM_004004.6:c.193T>CMANE SELECT
  • NP_003995.2:p.Tyr65His
  • NP_003995.2:p.Tyr65His
  • LRG_1350t1:c.193T>C
  • LRG_1350:g.8587T>C
  • LRG_1350p1:p.Tyr65His
  • NC_000013.10:g.20763528A>G
  • NM_004004.5:c.193T>C
Protein change:
Y65H; TYR65HIS
Links:
OMIM: 121011.0041; dbSNP: rs886037849
NCBI 1000 Genomes Browser:
rs886037849
Molecular consequence:
  • NM_004004.6:c.193T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mutilating keratoderma (VOWNKL)
Synonyms:
Deafness, congenital, with keratopachydermia and constrictions of fingers and toes; Keratoderma hereditarium mutilans
Identifiers:
MONDO: MONDO:0007422; MedGen: C0265964; Orphanet: 494; OMIM: 124500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000297932OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 1997) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.

Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dodé C, Marlin S, Boulila-ElGaïed A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, et al.

Hum Mol Genet. 1997 Nov;6(12):2173-7.

PubMed [citation]
PMID:
9336442

Details of each submission

From OMIM, SCV000297932.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 38-year-old Zimbabwean man with severe Vohwinkel syndrome (VOWNKL; 124500), de Zwart-Storm et al. (2011) identified heterozygosity for a c.193T-C transition in the GJB2 gene, resulting in a tyr65-to-his (Y65H) substitution within the first extracellular loop. Functional analysis in transiently transfected HeLa Ohio cells showed that the mutant mostly accumulated in perinuclear globular aggregates with only a few residual gap junction plaques, and the mutant gap junction channels showed reduced dye transfer compared to wildtype.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024