rs41310442
This variant is located in the GJB3 gene.
▶ClinVar annotation
not specified; Erythrokeratodermia variabilis et progressiva 1; not provided; Autosomal dominant nonsyndromic hearing loss 2B
View on ClinVar →▶Research that mentions this SNP (1)
▶Pendred syndrome and DFNB4‐mutation screening of SLC26A4 by denaturing high‐performance liquid chromatography and the identification of eleven novel mutationsAssociationN=484Sai Prasad et al.(2004)· American Journal of Medical Genetics Part A
Comprehensive molecular analysis of 284 deaf Chinese patients identified genetic mutations in genes GJB2 (18.31%), SLC26A4 (13.73%), and mtDNA 1555A>G (1.76%). The study screened GJB2, GJB3, GJB6, SLC26A4, and mitochondrial genes, with 54.93% of cases showing genetic involvement. The most prevalent mutation was GJB2 235delC, accounting for 71.64% of GJB2 mutant alleles.
About GJB3
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
View all GJB3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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