rs397517840

This variant is located in the TMC1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
4 submitters2 publications

not specified; not provided; Autosomal recessive nonsyndromic hearing loss 7; Autosomal dominant nonsyndromic hearing loss 36

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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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