rs786204597
This is a stop gained variant in the GJB2 gene.
▶ClinVar annotation
Autosomal recessive nonsyndromic hearing loss 1A (DFNB1A); Nonsyndromic genetic hearing loss
View on ClinVar →▶Research that mentions this SNP (1)
▶GJB2: The spectrum of deafness-causing allele variants and their phenotypeAssociationN=1,294Azaiez H. et al.(2004)· Human Mutation
This study characterizes the spectrum of GJB2 (Connexin 26) mutations causing DFNB1 autosomal recessive deafness in 1,294 deaf individuals. Among 205 DFNB1 cases identified, the c.35delG deletion accounts for most alleles, with homozygotes showing 88% mean hearing impairment and severe-to-profound deafness in ~90% of cases, while individuals with two missense mutations show only 37% mean impairment (P<0.05). The study also identified non-coding mutations including c.1-3172G>A and del(GJB6-D13S1830), and validated DHPLC as a highly sensitive (98.1%) mutation screening method.
About GJB2
This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]
View all GJB2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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