rs1796993
This is a variant in the TMC1 gene that changes a glutamate to an lysine.
▶ClinVar annotation
Autosomal dominant nonsyndromic hearing loss 36; Autosomal recessive nonsyndromic hearing loss 7; not specified
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…