rs775428246
This is a splice region variant variant in the TMC1 gene.
▶ClinVar annotation
Rare genetic deafness; Autosomal dominant nonsyndromic hearing loss 36; Autosomal recessive nonsyndromic hearing loss 7; Ear malformation; not provided; Hearing loss, autosomal recessive; Autosomal dominant nonsyndromic hearing loss 36;Autosomal recessive nonsyndromic hearing loss 7
View on ClinVar →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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