RIMS1

regulating synaptic membrane exocytosis 1

Summary

The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]

Known Variants1,046 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5778986376:72,596,425C/T—benign
rs8684150476:72,596,478C/G—uncertain significance
rs8860617046:72,596,546G/A—uncertain significance
rs5284943096:72,596,587T/C—benign
rs3718848946:72,596,600G/A—uncertain significance
rs5326878606:72,596,606C/T—uncertain significance
rs7634633236:72,596,714G/T—uncertain significance
rs25509014346:72,596,736G/T—uncertain significance
rs7674961166:72,596,739G/T—uncertain significance
rs14874535196:72,596,745C/A—uncertain significance
rs3700329626:72,596,752G/T—uncertain significance
rs2009350386:72,596,754C/T—conflicting classifications of pathogenicity
rs5466362526:72,596,755C/G—uncertain significance
rs13358089186:72,596,758G/A—uncertain significance
rs5715408366:72,596,759C/A—likely benign
rs5385628906:72,596,765C/G—likely benign
rs15828037746:72,596,767C/T—uncertain significance
rs3757526306:72,596,771G/A—likely benign
rs7729612156:72,596,775C/T—uncertain significance
rs9801686246:72,596,778C/A—uncertain significance
rs7714321036:72,596,780C/A—likely benign
rs9984534346:72,596,795C/G—likely benign
rs17679564816:72,596,796G/A—uncertain significance
rs7601130366:72,596,798C/G—uncertain significance
rs13059813696:72,596,813C/T—likely benign
rs7608473966:72,596,814G/C—uncertain significance
rs25509017736:72,596,827A/G—uncertain significance
rs17679600736:72,596,830T/C—uncertain significance
rs7626788796:72,596,836T/C—uncertain significance
rs21502967636:72,596,849C/T—likely benign
rs21502968776:72,596,870A/T—uncertain significance
rs7775063146:72,596,890A/T—uncertain significance
rs3727762136:72,596,903C/T—likely benign
rs5547983386:72,596,904A/G—likely benign
rs3682467436:72,596,905G/T—likely benign
rs12312784326:72,596,907C/G—likely benign
rs5427733726:72,596,908G/A—likely benign
rs7767689706:72,596,909C/T—likely benign
rs12181510266:72,596,910G/A—likely benign
rs7787462506:72,678,673T/A—likely benign
rs7725083126:72,678,675A/G—likely benign
rs5695169006:72,678,678C/T—likely benign
rs7596022646:72,678,679G/A—likely benign
rs5326529256:72,678,681C/G—benign
rs2000050956:72,678,690G/C—conflicting classifications of pathogenicity
rs14884368596:72,678,700A/T—uncertain significance
rs11922784606:72,678,705G/A—uncertain significance
rs7699750466:72,678,706C/T—uncertain significance
rs7734569886:72,678,707G/A—likely benign
rs7592062636:72,678,711C/A—uncertain significance
rs7673444016:72,678,718C/A—uncertain significance
rs9801067666:72,678,732A/C—likely benign
rs7641742376:72,678,744A/C—uncertain significance
rs7533653496:72,678,748A/T—uncertain significance
rs7586236336:72,678,758A/G—likely benign
rs7804639116:72,678,759C/T—uncertain significance
rs13534711326:72,678,765C/T—uncertain significance
rs3764914876:72,678,766C/T—uncertain significance
rs3697677786:72,806,641C/G—likely benign
rs7580639886:72,806,646G/A—benign
rs3735730526:72,806,654G/A—likely benign
rs3756672186:72,806,661T/C—likely benign
rs14272441776:72,806,662C/G—uncertain significance
rs14672556826:72,806,664A/G—likely benign
rs7816326626:72,806,675G/T—uncertain significance
rs21538041366:72,806,691G/A—likely benign
rs7779077466:72,806,711C/G—uncertain significance
rs21538041476:72,806,713C/T—uncertain significance
rs7711657786:72,806,714G/A—uncertain significance
rs7744618106:72,806,717G/A—uncertain significance
rs9656566816:72,806,725G/A—uncertain significance
rs13081219626:72,806,726G/T—uncertain significance
rs14086603836:72,806,727C/T—uncertain significance
rs7685764666:72,806,739C/G—uncertain significance
rs20319733146:72,806,743G/A—uncertain significance
rs20319765586:72,806,772A/G—likely benign
rs7624167776:72,806,782G/T—uncertain significance
rs3727312306:72,806,784T/A—uncertain significance
rs9146599646:72,806,790C/T—likely benign
rs7511987526:72,806,797C/T—uncertain significance
rs7678772506:72,806,808T/C—likely benign
rs10443900196:72,806,812C/A—uncertain significance
rs7573147036:72,806,828C/T—uncertain significance
rs3772112966:72,806,829G/A—likely benign
rs5669007186:72,806,841C/A—benign
rs12449405916:72,806,842C/T—uncertain significance
rs1421964186:72,806,844C/T—benign
rs7466540496:72,806,849C/T—uncertain significance
rs14687347566:72,806,853A/G—likely benign
rs25516445066:72,806,856G/A—likely benign
rs5524827516:72,806,864A/C—benign
rs12385254296:72,806,865C/T—uncertain significance
rs5525851166:72,806,877A/G—benign
rs7703480736:72,806,879G/A—likely benign
rs412654896:72,809,641C/T—benign
rs7491929706:72,809,659C/T—likely benign
rs7738246776:72,809,661T/C—likely benign
rs14682362016:72,809,665T/C—likely benign
rs13300235356:72,809,672C/T—likely benign
rs14293334276:72,809,678G/C—uncertain significance

Showing 100 of 1,046 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.