rs767931569
This variant is located in the TMPRSS3 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Evaluation of the Myosin VIIA Gene and Visual Function in Patients with Usher Syndrome Type ICase reportN=103Amitabh K. Bharadwaj et al.(2000)· Experimental Eye Research
Genomic studies in 103 Italian patients with non-syndromic hearing loss (NSHL) using targeted re-sequencing of 96 HHL genes followed by SNP arrays identified mutations in 31% of cases (37% familial, 26.3% sporadic), with TECTA and ACTG1 as major genes. The study identified 17 new alleles, two de novo ACTG1 variants, and the first case of uniparental disomy in LOXHD1, achieving an overall 51% detection rate when combined with GJB2.
About TMPRSS3
This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
View all TMPRSS3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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