CACNA2D1

calcium voltage-gated channel auxiliary subunit alpha2delta 1

Summary

The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014]

Known Variants736 total

rsidPosition (GRCh37)AllelesClassClinVar
rs753700277:81,579,514C/A—likely benign
rs783682037:81,579,588A/T—benign
rs8900052727:81,579,709C/T—likely benign
rs7599882437:81,579,710A/G—uncertain significance
rs13239246577:81,579,714C/T—likely benign
rs1436319857:81,579,718C/T—uncertain significance
rs5507947147:81,579,719G/A—likely benign
rs14579335357:81,579,724G/A—uncertain significance
rs1383313267:81,579,730C/T—uncertain significance
rs24841908827:81,579,731C/T—uncertain significance
rs7583419137:81,579,732A/G—likely benign
rs24841909707:81,579,735T/C—likely benign
rs7739801917:81,579,742C/A—uncertain significance
rs7807712067:81,579,749G/C—uncertain significance
rs1462508937:81,579,766A/G—uncertain significance
rs9569663527:81,579,772T/G—uncertain significance
rs21299317507:81,579,773A/G—uncertain significance
rs10240100757:81,579,776A/G—uncertain significance
rs7680287847:81,579,783G/A—likely benign
rs24841925347:81,579,799A/C—uncertain significance
rs21299326287:81,579,814G/C—uncertain significance
rs24841928967:81,579,817T/A—uncertain significance
rs17923906937:81,579,833A/T—likely benign
rs3687226457:81,579,838A/C—likely benign
rs5641227417:81,579,841A/G—likely benign
rs1165299907:81,579,973T/C—likely benign
rs171556817:81,580,147A/C—benign
rs11733094407:81,588,598T/C—uncertain significance
rs351314337:81,588,616T/G—likely benign
rs12394586087:81,588,620G/C—uncertain significance
rs11856432867:81,588,628C/T—uncertain significance
rs12295027:81,588,636A/G—benign
rs7489290827:81,588,641G/C—uncertain significance
rs5688219677:81,588,669G/A—likely benign
rs21301737417:81,588,682G/A—likely benign
rs802121157:81,588,975C/T—likely benign
rs7498825347:81,589,022A/C—likely benign
rs7805604527:81,589,046C/T—uncertain significance
rs7475006417:81,589,047G/A—conflicting classifications of pathogenicity
rs7813865877:81,589,049T/C—likely benign
rs7485811947:81,589,052T/C—conflicting classifications of pathogenicity
rs17938788937:81,589,053A/G—uncertain significance
rs792164987:81,589,062C/T—conflicting classifications of pathogenicity
rs12630070507:81,589,071C/T—uncertain significance
rs3733481817:81,589,073T/G—likely benign
rs13004467037:81,589,079T/C—likely benign
rs24843594407:81,589,082C/T—likely benign
rs17938816247:81,589,088G/A—likely benign
rs7709509937:81,589,096C/T—conflicting classifications of pathogenicity
rs12522454067:81,589,111A/G—likely benign
rs17938841447:81,589,112G/A—likely benign
rs12373766937:81,589,115G/A—likely benign
rs12848205547:81,589,120T/C—uncertain significance
rs12184490467:81,589,126G/T—conflicting classifications of pathogenicity
rs7493982667:81,589,129T/G—conflicting classifications of pathogenicity
rs10406070967:81,589,139A/G—likely benign
rs21301870777:81,589,143A/T—uncertain significance
rs1505945477:81,589,144T/C—uncertain significance
rs3757338347:81,589,148G/T—conflicting classifications of pathogenicity
rs7649207457:81,589,154T/C—likely benign
rs7501192717:81,589,160T/C—likely benign
rs23023837:81,589,314A/C—benign
rs119796497:81,591,027C/T—benign
rs24844056317:81,591,202T/C—likely benign
rs15543288297:81,591,211T/G—uncertain significance
rs21302468397:81,591,218G/A—likely benign
rs13910447777:81,591,232A/T—uncertain significance
rs13444182097:81,591,233T/C—likely benign
rs11735584057:81,591,237C/G—uncertain significance
rs13313240307:81,591,253T/C—uncertain significance
rs7742854837:81,591,256C/T—uncertain significance
rs3740734977:81,591,257G/A—likely benign
rs7684083457:81,591,258T/A—conflicting classifications of pathogenicity
rs7767209307:81,591,262C/T—uncertain significance
rs7616485697:81,591,263G/A—likely benign
rs8953349937:81,591,281T/C—likely benign
rs12586768917:81,591,285G/T—uncertain significance
rs7509696267:81,591,295T/C—uncertain significance
rs7545332167:81,591,302G/A—likely benign
rs7679632007:81,591,307G/A—likely benign
rs7680816237:81,591,309G/T—uncertain significance
rs7497220107:81,591,314C/T—likely benign
rs1118880277:81,591,315G/A—uncertain significance
rs7458759057:81,591,319A/G—uncertain significance
rs7722123177:81,591,323A/G—likely benign
rs1395975627:81,591,329C/T—likely benign
rs15841915237:81,591,343G/C—likely benign
rs1121767107:81,591,346T/C—likely benign
rs5300403337:81,591,349C/T—likely benign
rs3760877697:81,591,350G/A—likely benign
rs7740767787:81,591,353G/C—likely benign
rs3707254917:81,591,356C/T—likely benign
rs3704967907:81,591,357G/A—likely benign
rs1469238877:81,591,409G/A—likely benign
rs12295037:81,591,716T/G—benign
rs24844241207:81,591,737G/C—likely benign
rs7698490317:81,591,738G/T—likely benign
rs7489888437:81,591,757T/A—uncertain significance
rs9916072677:81,591,770C/T—uncertain significance
rs13467386107:81,591,771G/A—uncertain significance

Showing 100 of 736 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.