rs2589615
This variant is located in the TMC1 gene.
▶ClinVar annotation
not specified; Autosomal recessive nonsyndromic hearing loss 7; Autosomal dominant nonsyndromic hearing loss 36; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶Novel sequence variants in theTMC1 gene in Pakistani families with autosomal recessive hearing impairmentAssociationN=168Regie Lyn P. Santos et al.(2005)· Human Mutation
This study identified five novel TMC1 gene variants (c.830A>G p.Y277C, c.1114G>A p.V372M, c.1334G>A p.R445H, c.2004T>G p.S668R, c.2035G>A p.E679K) segregating in Pakistani families with autosomal recessive nonsyndromic hearing impairment, along with one known splice site mutation (c.536-8T>A). The estimated prevalence of TMC1-related hearing impairment in the Pakistani population was 4.4% (95% CI: 1.9, 8.6%).
About TMC1
This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008]
View all TMC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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