TMPRSS3

transmembrane serine protease 3

Summary

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]

Known Variants491 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11697494321:43,792,056T/C—conflicting classifications of pathogenicity
rs77142291721:43,792,066A/G—uncertain significance
rs141368674421:43,792,089C/T—uncertain significance
rs3544739321:43,792,094A/C—uncertain significance
rs14677420721:43,792,116C/A—uncertain significance
rs205234373521:43,792,121G/T—uncertain significance
rs88605709021:43,792,179C/T—uncertain significance
rs75351497421:43,792,207G/A—uncertain significance
rs88605709121:43,792,295C/T—uncertain significance
rs104233642421:43,792,298G/A—uncertain significance
rs14413883021:43,792,331C/T—uncertain significance
rs54053383121:43,792,332G/A—uncertain significance
rs14649719221:43,792,378G/A—uncertain significance
rs11539843421:43,792,379G/A—uncertain significance
rs53721173721:43,792,394C/T—uncertain significance
rs55570160421:43,792,395G/A—uncertain significance
rs76013265521:43,792,442G/T—uncertain significance
rs14083849121:43,792,460G/T—uncertain significance
rs5595491421:43,792,462G/A—likely benign
rs14551575321:43,792,464T/A—uncertain significance
rs76492922521:43,792,469G/A—uncertain significance
rs88605709221:43,792,474G/T—uncertain significance
rs18247267521:43,792,537C/T—uncertain significance
rs75736932021:43,792,584G/A—uncertain significance
rs5769223921:43,792,625C/T—likely benign
rs75532454021:43,792,626G/A—uncertain significance
rs22530921:43,792,665T/C—benign
rs11678991721:43,792,680A/G—likely benign
rs11481348721:43,792,682A/G—likely benign
rs88605709321:43,792,694T/G—uncertain significance
rs76637826521:43,792,790G/A—uncertain significance
rs13790361221:43,792,818C/T—conflicting classifications of pathogenicity
rs1304783821:43,792,869C/T—benign
rs14991989021:43,792,873A/G—conflicting classifications of pathogenicity
rs251709046921:43,792,883G/A—likely benign
rs214641548721:43,792,896T/C—likely benign
rs36760177921:43,792,907G/A—likely benign
rs36962601521:43,792,908C/T—likely benign
rs11174508721:43,793,092G/C—benign
rs6087245921:43,793,132G/A—benign
rs283949321:43,795,697A/G—benign
rs1711479121:43,795,709G/A—benign
rs1711479221:43,795,788C/G—benign
rs205241265521:43,795,808G/A—likely benign
rs76450199421:43,795,813C/T—likely benign
rs37213277021:43,795,814G/A—likely benign
rs20073963321:43,795,816C/T—conflicting classifications of pathogenicity
rs36807589421:43,795,817G/A—conflicting classifications of pathogenicity
rs75100128521:43,795,822C/T—uncertain significance
rs98619768621:43,795,827C/G—uncertain significance
rs20101875121:43,795,829A/Gmissense variantpathogenic
rs77759567321:43,795,836C/T—conflicting classifications of pathogenicity
rs18697295521:43,795,837G/A—conflicting classifications of pathogenicity
rs251709673021:43,795,841A/G—likely pathogenic
rs131259282521:43,795,861G/A—likely benign
rs11490423721:43,795,863C/T—conflicting classifications of pathogenicity
rs76980764421:43,795,865C/G—pathogenic
rs56534887421:43,795,866G/A—conflicting classifications of pathogenicity
rs145941593921:43,795,867G/A—likely benign
rs36905045221:43,795,876C/G—likely benign
rs76204666821:43,795,879A/G—likely benign
rs76793156921:43,795,881G/T—likely pathogenic
rs14434446821:43,795,886T/C—uncertain significance
rs205241626621:43,795,891C/G—likely benign
rs5626451921:43,795,896C/Tmissense variantpathogenic
rs5617891021:43,795,897G/A—conflicting classifications of pathogenicity
rs37246922721:43,795,903G/A—conflicting classifications of pathogenicity
rs14344786821:43,795,906G/T—likely benign
rs74579179421:43,795,915G/A—likely benign
rs75610683921:43,795,918C/T—likely benign
rs37753132521:43,795,919G/A—uncertain significance
rs251709704921:43,795,924C/T—likely benign
rs132793859521:43,795,929A/G—likely benign
rs76880190021:43,795,930C/T—likely benign
rs102808954421:43,795,938G/A—likely benign
rs133713488321:43,795,945C/G—uncertain significance
rs77378015121:43,795,953A/G—pathogenic
rs2893908421:43,795,961G/Amissense variantpathogenic
rs147230774321:43,795,963C/T—likely benign
rs116526832721:43,795,966C/T—likely benign
rs137453342621:43,795,968C/T—pathogenic
rs96298087321:43,795,969G/A—likely benign
rs39751737121:43,795,972G/C—conflicting classifications of pathogenicity
rs251709728521:43,795,975C/T—likely benign
rs127212506021:43,795,977C/T—uncertain significance
rs160151499021:43,795,978C/G—pathogenic
rs97178779821:43,795,981G/T—likely benign
rs75111470921:43,795,985A/G—conflicting classifications of pathogenicity
rs134108183721:43,795,988G/A—likely benign
rs76158425621:43,795,989G/A—likely benign
rs76729184321:43,795,993G/A—likely benign
rs14573488821:43,796,195C/G—likely benign
rs13832963621:43,796,357C/T—likely benign
rs283949421:43,796,494G/C—benign
rs77883278621:43,796,634C/T—likely benign
rs20202095221:43,796,635G/A—likely benign
rs156887736921:43,796,636C/A—likely benign
rs121145829621:43,796,638G/A—likely benign
rs72750530521:43,796,639C/T—likely benign
rs20145102821:43,796,640G/A—conflicting classifications of pathogenicity

Showing 100 of 491 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.