PRSS1

serine protease 1

Summary

This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008]

Known Variants503 total

rsidPosition (GRCh37)AllelesClassClinVar
rs102736397:142,456,928T/Cupstream gene variant—
rs1845533577:142,456,998T/G—uncertain significance
rs47265767:142,457,132A/C—benign
rs3696275147:142,457,326C/A—uncertain significance
rs24857127647:142,457,332C/A—uncertain significance
rs7664650807:142,457,334C/A—uncertain significance
rs7756122387:142,457,335C/T—uncertain significance
rs17984968967:142,457,336A/T—uncertain significance
rs13662785587:142,457,337T/G—uncertain significance
rs7629806207:142,457,339A/C—conflicting classifications of pathogenicity
rs1405912377:142,457,341T/A—conflicting classifications of pathogenicity
rs21169451887:142,457,344A/G—likely benign
rs7499688297:142,457,347C/A—likely benign
rs24857130237:142,457,348C/T—likely benign
rs7795838247:142,457,350G/C—likely benign
rs15859723787:142,457,351A/T—uncertain significance
rs7498566637:142,457,357A/G—likely benign
rs2010277697:142,457,358C/T—uncertain significance
rs24857131487:142,457,359C/A—likely benign
rs24857131807:142,457,362T/C—likely benign
rs11598210297:142,457,363G/A—uncertain significance
rs7792603047:142,457,365G/T—likely benign
rs12768302847:142,457,366G/A—uncertain significance
rs7484422807:142,457,367C/G—likely benign
rs24857133317:142,457,369G/A—uncertain significance
rs7723639997:142,457,370C/T—uncertain significance
rs7733577297:142,457,373C/T—uncertain significance
rs7472280527:142,457,375C/T—uncertain significance
rs1491257897:142,457,376G/A—uncertain significance
rs7629989407:142,457,378G/A—uncertain significance
rs1996134987:142,457,385A/G—likely benign
rs3688728477:142,457,388C/T—likely benign
rs7603702547:142,457,390C/T—likely benign
rs21169456737:142,457,391T/C—likely benign
rs7532837987:142,457,393C/A—likely benign
rs2005296747:142,457,411C/G—likely benign
rs1148190847:142,458,191G/A—likely benign
rs1909422147:142,458,357C/T—benign
rs7577439397:142,458,392C/T—likely benign
rs12680090797:142,458,397C/G—likely benign
rs2006655157:142,458,409C/T—uncertain significance
rs24857318197:142,458,410T/A—likely benign
rs2020038057:142,458,412C/Tmissense variantpathogenic
rs15859784877:142,458,413C/T—likely benign
rs7707825787:142,458,414C/G—uncertain significance
rs7764014617:142,458,415C/T—uncertain significance
rs7455381667:142,458,416C/A—likely benign
rs24857319927:142,458,417T/C—uncertain significance
rs24857320697:142,458,420G/C—uncertain significance
rs7693699617:142,458,421A/G—uncertain significance
rs7748956537:142,458,423G/A—uncertain significance
rs15859785587:142,458,425T/C—likely benign
rs12228406687:142,458,426G/C—uncertain significance
rs24857321737:142,458,427A/T—uncertain significance
rs15632587947:142,458,429G/A—uncertain significance
rs3975074427:142,458,430A/Gmissense variant—
rs15859786247:142,458,431C/G—uncertain significance
rs12900776357:142,458,432A/G—uncertain significance
rs1110335677:142,458,433A/Gmissense variantpathogenic
rs7634926117:142,458,434G/A—likely benign
rs24857324257:142,458,436T/A—uncertain significance
rs3726373717:142,458,437C/A—likely benign
rs7680514737:142,458,438G/A—uncertain significance
rs5643682527:142,458,439T/C—uncertain significance
rs12493408277:142,458,440T/C—likely benign
rs7665798397:142,458,441G/C—uncertain significance
rs7538835237:142,458,442G/A—uncertain significance
rs7551290297:142,458,443G/A—likely benign
rs17986189827:142,458,445G/A—uncertain significance
rs14038365467:142,458,446C/T—likely benign
rs14054331587:142,458,447T/G—uncertain significance
rs17986194047:142,458,449C/T—likely benign
rs1110335667:142,458,451A/Tmissense variantpathogenic
rs7470108817:142,458,452C/G—uncertain significance
rs14321680307:142,458,453T/A—uncertain significance
rs7003237:142,458,456G/A—uncertain significance
rs24857328297:142,458,457A/T—uncertain significance
rs7456239637:142,458,458G/C—uncertain significance
rs14491240967:142,458,460A/G—uncertain significance
rs12539446257:142,458,461G/C—uncertain significance
rs24857329167:142,458,463A/C—uncertain significance
rs12863514417:142,458,468G/T—uncertain significance
rs24857329997:142,458,469T/C—uncertain significance
rs17986211417:142,458,470C/G—likely benign
rs7694599037:142,458,472C/G—uncertain significance
rs24857330817:142,458,473C/T—likely benign
rs24857330987:142,458,476C/T—likely benign
rs7752591097:142,458,477C/G—uncertain significance
rs17986216947:142,458,479G/A—likely benign
rs3975074397:142,458,481T/Cmissense variantpathogenic
rs24857332357:142,458,483T/G—uncertain significance
rs7682770127:142,458,484C/A—uncertain significance
rs24857332807:142,458,485C/T—likely benign
rs3696463577:142,458,486C/T—likely benign
rs24857333107:142,458,488G/A—likely benign
rs12232315827:142,458,490A/G—uncertain significance
rs24857333847:142,458,494T/C—likely benign
rs7726366067:142,458,495G/A—uncertain significance
rs7610683717:142,458,497C/G—likely benign
rs13317963257:142,458,499A/C—uncertain significance

Showing 100 of 503 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.