CANT1

calcium activated nucleotidase 1

Summary

This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010]

Known Variants352 total

rsidPosition (GRCh37)AllelesClassClinVar
rs19254626317:76,987,838A/C—likely benign
rs18417153417:76,987,900A/G—benign
rs207085083817:76,987,901G/A—uncertain significance
rs88605351917:76,988,148G/T—uncertain significance
rs88605352017:76,988,153G/T—uncertain significance
rs7399935717:76,988,156C/T—benign
rs486117:76,988,192T/C—benign
rs19031892717:76,988,220T/C—uncertain significance
rs13967378417:76,988,256G/C—likely benign
rs99264382717:76,988,273G/A—uncertain significance
rs18643689117:76,988,465C/T—uncertain significance
rs102772411617:76,988,479G/A—uncertain significance
rs11470674817:76,988,483G/A—benign
rs807886017:76,988,539G/A—benign
rs7756594517:76,988,576A/G—benign
rs146182435817:76,988,582G/A—uncertain significance
rs13995197517:76,988,600C/A—uncertain significance
rs7803789817:76,988,634C/G—uncertain significance
rs7512641617:76,988,668T/C—benign
rs77710557517:76,988,713G/C—uncertain significance
rs55110109717:76,988,756C/T—uncertain significance
rs1189117:76,988,785G/A—benign
rs78102543917:76,988,795G/A—uncertain significance
rs11585654517:76,988,803C/T—benign
rs53575499017:76,988,819C/G—uncertain significance
rs76412339717:76,988,851G/T—uncertain significance
rs74556805717:76,988,879G/T—uncertain significance
rs74845506117:76,988,884A/T—uncertain significance
rs14999190817:76,988,936A/C—likely benign
rs11412576217:76,988,961A/G—benign
rs7918936917:76,988,968A/G—benign
rs807936817:76,989,062C/T—benign
rs207088953417:76,989,063G/A—uncertain significance
rs88605352217:76,989,082T/G—uncertain significance
rs88605352317:76,989,182T/C—uncertain significance
rs14913165017:76,989,187C/T—uncertain significance
rs56055442717:76,989,258G/A—uncertain significance
rs76654621817:76,989,280C/T—uncertain significance
rs57622269817:76,989,331G/A—uncertain significance
rs88605352417:76,989,409G/A—uncertain significance
rs54499791217:76,989,458C/T—uncertain significance
rs52922481417:76,989,469G/C—uncertain significance
rs11790486217:76,989,475C/T—likely benign
rs207090256117:76,989,513C/T—uncertain significance
rs14686643617:76,989,543C/T—uncertain significance
rs88605352517:76,989,575C/T—uncertain significance
rs76035675617:76,989,608C/T—uncertain significance
rs19086736417:76,989,623C/T—likely benign
rs75315034217:76,989,633T/C—likely benign
rs119810636317:76,989,652C/G—uncertain significance
rs77807192317:76,989,653G/A—likely benign
rs56725983417:76,989,661C/A—uncertain significance
rs14750183117:76,989,662G/A—likely benign
rs3408266917:76,989,666C/T—conflicting classifications of pathogenicity
rs121561751417:76,989,668G/C—uncertain significance
rs76093466217:76,989,674G/C—likely benign
rs76860696317:76,989,680C/T—likely benign
rs36958024817:76,989,681G/A—uncertain significance
rs14579484717:76,989,686C/G—likely benign
rs207091124617:76,989,698G/A—likely benign
rs117806536517:76,989,702A/G—uncertain significance
rs3532435917:76,989,704C/T—benign
rs75120093117:76,989,705G/A—uncertain significance
rs14773889917:76,989,707G/A—likely benign
rs75418784317:76,989,713C/A—uncertain significance
rs75782946017:76,989,714A/G—uncertain significance
rs13948640617:76,989,715T/A—likely benign
rs250980809817:76,989,721A/T—uncertain significance
rs37231494617:76,989,725G/A—likely benign
rs37263112417:76,989,726G/A—conflicting classifications of pathogenicity
rs74791742217:76,989,728G/A—likely benign
rs77304253817:76,989,737G/A—likely benign
rs127525468017:76,989,749G/A—likely benign
rs38790708117:76,989,759G/Tmissense variantpathogenic
rs207091552817:76,989,764A/G—likely benign
rs14551671317:76,989,775C/T—conflicting classifications of pathogenicity
rs250980818717:76,989,776G/A—likely benign
rs101994106517:76,989,779G/C—likely benign
rs380378117:76,989,782G/A—benign
rs75092825617:76,989,803C/T—likely benign
rs78001586217:76,989,809G/T—likely benign
rs75528809217:76,989,812G/A—conflicting classifications of pathogenicity
rs116769486917:76,989,821G/A—likely benign
rs14547208117:76,989,824C/T—benign
rs250980826817:76,989,825A/C—uncertain significance
rs37314276017:76,989,827C/T—likely benign
rs74919480717:76,989,828G/A—uncertain significance
rs250980827917:76,989,829C/A—uncertain significance
rs75901641717:76,989,833G/A—likely benign
rs129778839717:76,989,836G/A—likely benign
rs37649560817:76,989,846G/A—uncertain significance
rs134565820017:76,989,847C/T—uncertain significance
rs76033718817:76,989,848G/A—likely benign
rs36910847917:76,989,856C/T—conflicting classifications of pathogenicity
rs75889019017:76,989,857G/A—likely benign
rs143719720017:76,989,866G/C—likely benign
rs75173502817:76,989,869G/A—conflicting classifications of pathogenicity
rs990321517:76,989,871C/T—likely benign
rs14098992117:76,989,872G/A—conflicting classifications of pathogenicity
rs93332345817:76,989,875C/T—likely benign

Showing 100 of 352 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.