TMPRSS15

transmembrane serine protease 15

Summary

This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. This protein is a member of the trypsin family of peptidases. Mutations in this gene cause enterokinase deficiency, a malabsorption disorder characterized by diarrhea and failure to thrive. [provided by RefSeq, Jul 2008]

Known Variants388 total

rsidPosition (GRCh37)AllelesClassClinVar
rs146369202221:19,642,308C/T—uncertain significance
rs14649436421:19,642,312C/T—uncertain significance
rs103680513621:19,642,314G/A—uncertain significance
rs14103356221:19,642,321T/C—uncertain significance
rs78164619821:19,642,330T/C—uncertain significance
rs91950446821:19,642,331G/C—likely benign
rs14464041221:19,642,342C/T—uncertain significance
rs54454200621:19,642,343G/A—likely benign
rs19202251521:19,642,347C/T—uncertain significance
rs14669585721:19,642,348G/T—uncertain significance
rs207453564821:19,642,359G/A—uncertain significance
rs251647252121:19,642,387C/T—uncertain significance
rs75001034421:19,642,393G/C—uncertain significance
rs251647258121:19,642,402T/C—uncertain significance
rs75661436921:19,642,418C/G—uncertain significance
rs77841117321:19,642,419A/G—uncertain significance
rs54867917121:19,642,439C/T—likely benign
rs14619869721:19,642,441C/T—likely benign
rs137353812421:19,642,461A/G—likely benign
rs134951704021:19,647,508C/A—uncertain significance
rs251648627321:19,647,523A/T—uncertain significance
rs251648630321:19,647,531C/T—uncertain significance
rs15030772421:19,647,570T/A—uncertain significance
rs75847293321:19,647,590T/C—uncertain significance
rs78023784721:19,647,591G/A—pathogenic
rs13893593521:19,647,593T/C—uncertain significance
rs102971439921:19,647,610T/C—likely benign
rs214685641221:19,647,615G/A—uncertain significance
rs122869039521:19,647,633G/A—pathogenic
rs76603645921:19,647,655T/C—likely pathogenic
rs53236741621:19,647,656G/T—uncertain significance
rs75929496021:19,647,668G/A—likely benign
rs76222357021:19,651,265G/T—likely benign
rs75090732621:19,651,266A/T—likely benign
rs75893269021:19,651,267G/T—benign
rs75511971721:19,651,270T/C—likely benign
rs122318493321:19,651,271G/T—likely benign
rs128429520021:19,651,272A/T—likely benign
rs160125608421:19,651,274A/T—likely benign
rs77100481621:19,651,294C/T—likely benign
rs77849693921:19,651,295G/A—uncertain significance
rs115837570421:19,651,301C/T—pathogenic
rs7332012521:19,651,307G/A—benign
rs37196421421:19,651,320T/A—uncertain significance
rs14711920621:19,651,329G/C—likely benign
rs76338741921:19,651,330A/G—likely benign
rs56464801721:19,651,339T/C—likely benign
rs13807051821:19,651,341G/C—likely benign
rs75959308421:19,651,351C/T—likely benign
rs1769844521:19,651,357A/G—benign
rs77756748421:19,651,368G/C—uncertain significance
rs75718387021:19,651,387A/T—benign
rs77898112621:19,651,389G/C—likely benign
rs75934032121:19,653,372T/G—uncertain significance
rs126234103421:19,653,373A/G—likely benign
rs37595723421:19,653,378C/G—uncertain significance
rs14875678121:19,653,400G/A—likely benign
rs76515971321:19,653,406C/T—likely benign
rs18615092821:19,653,413C/T—uncertain significance
rs76725888821:19,653,414G/A—pathogenic
rs207469290621:19,653,430G/T—uncertain significance
rs74631836021:19,653,446T/C—uncertain significance
rs77613010621:19,653,449A/C—uncertain significance
rs75606515321:19,653,455C/T—uncertain significance
rs12190805921:19,653,456G/Astop gainedpathogenic
rs75546404421:19,653,460G/A—likely benign
rs13989779221:19,653,486A/G—uncertain significance
rs20048328521:19,653,489T/G—conflicting classifications of pathogenicity
rs75156759121:19,653,493A/G—likely benign
rs14768410521:19,653,520G/T—likely benign
rs77918454521:19,653,550A/G—likely benign
rs75357446121:19,666,586C/T—likely pathogenic
rs813011021:19,666,590T/C—benign
rs74742106121:19,666,592C/T—likely benign
rs37090874821:19,666,595G/A—likely benign
rs13877644221:19,666,607G/A—likely benign
rs20210018521:19,666,630C/T—uncertain significance
rs214689902121:19,666,635G/A—uncertain significance
rs37257141021:19,666,639C/A—uncertain significance
rs77190103421:19,666,658G/A—likely benign
rs76063332621:19,666,661A/G—likely benign
rs117689694721:19,666,675C/T—uncertain significance
rs97540672421:19,666,685C/T—pathogenic
rs57065116221:19,666,690C/T—likely benign
rs37059803021:19,666,691C/T—likely benign
rs104799944421:19,666,700G/A—likely benign
rs146183078921:19,666,709T/A—likely benign
rs20124730521:19,666,712T/C—likely benign
rs121818505421:19,666,719A/G—uncertain significance
rs251655274921:19,666,745C/T—likely benign
rs76469610121:19,666,754T/C—likely benign
rs94469276221:19,666,760A/G—likely benign
rs14343271121:19,666,762C/T—likely pathogenic
rs36803255121:19,666,769A/C—likely benign
rs214689961521:19,666,771T/G—likely benign
rs75661813521:19,666,777G/C—likely benign
rs154000021:19,666,901T/A—benign
rs251655377621:19,666,903A/G—likely benign
rs282471821:19,666,910A/G—benign
rs15092323821:19,666,932A/G—uncertain significance

Showing 100 of 388 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.