rs111033294
This is a variant in the GJB2 gene that changes a asparagine to an serine.
▶ClinVar annotation
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Autosomal dominant nonsyndromic hearing loss 3A; Autosomal recessive nonsyndromic hearing loss 1A (DFNB1A); Autosomal recessive nonsyndromic hearing loss 1B; GJB2-related disorder; Hearing impairment; Ichthyosis, hystrix-like, with hearing loss; Knuckle pads, deafness AND leukonychia syndrome; Mutilating keratoderma (VOWNKL); Nonsyndromic genetic hearing loss; Palmoplantar keratoderma-deafness syndrome; Rare genetic deafness
View on ClinVar →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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