CACNA1H

calcium voltage-gated channel subunit alpha1 H

Summary

This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]

Known Variants2,916 total

rsidPosition (GRCh37)AllelesClassClinVar
rs133599309216:1,203,742C/A—uncertain significance
rs99306166516:1,203,743C/T—likely benign
rs94856102416:1,203,750G/A—conflicting classifications of pathogenicity
rs141900567516:1,203,752A/C—likely benign
rs125757445516:1,203,753C/A—likely benign
rs118486255716:1,203,754G/A—uncertain significance
rs90429722116:1,203,758C/T—likely benign
rs126623373116:1,203,765G/A—uncertain significance
rs254847876816:1,203,768G/C—uncertain significance
rs196189627216:1,203,773G/C—likely benign
rs130657314416:1,203,776G/A—likely benign
rs127036178716:1,203,777C/T—uncertain significance
rs126355722716:1,203,778C/T—likely benign
rs148674517216:1,203,779C/T—likely benign
rs105274392116:1,203,780C/T—likely benign
rs145040416916:1,203,785C/T—likely benign
rs254847888116:1,203,789C/T—uncertain significance
rs133716712616:1,203,791G/A—likely benign
rs119693928316:1,203,793C/G—uncertain significance
rs89069570716:1,203,796C/G—uncertain significance
rs126132035316:1,203,800C/T—likely benign
rs101818691516:1,203,802C/G—uncertain significance
rs215160340616:1,203,810T/G—uncertain significance
rs196190162716:1,203,812G/A—likely benign
rs215160347816:1,203,818G/A—likely benign
rs144334869116:1,203,823C/T—uncertain significance
rs125828582016:1,203,827G/A—benign
rs254847913516:1,203,829A/G—uncertain significance
rs19161321416:1,203,830G/A—likely benign
rs116332732216:1,203,834C/T—benign
rs77826659816:1,203,836C/G—likely benign
rs145926687616:1,203,837G/T—conflicting classifications of pathogenicity
rs128896651016:1,203,842G/A—likely benign
rs74764683716:1,203,844C/T—benign
rs2836512616:1,203,845G/C—likely benign
rs254847923916:1,203,848A/G—likely benign
rs215160379216:1,203,863G/C—likely benign
rs122759961216:1,203,865G/T—uncertain significance
rs128620161116:1,203,866G/A—likely benign
rs98343788716:1,203,868C/T—uncertain significance
rs103505114316:1,203,869C/T—likely benign
rs137134294216:1,203,872G/T—uncertain significance
rs96022557316:1,203,875C/T—likely benign
rs155549816316:1,203,877G/C—uncertain significance
rs139771423016:1,203,882T/C—uncertain significance
rs120812665716:1,203,885C/T—uncertain significance
rs74671615516:1,203,886C/T—conflicting classifications of pathogenicity
rs135557100216:1,203,887C/T—likely benign
rs149056692016:1,203,888T/G—benign
rs117927302416:1,203,890C/T—likely benign
rs139490884716:1,203,898C/T—uncertain significance
rs196191247016:1,203,905C/T—likely benign
rs53932445716:1,203,908G/T—conflicting classifications of pathogenicity
rs131859853516:1,203,909C/G—uncertain significance
rs129247239016:1,203,911C/T—likely benign
rs136739695516:1,203,912G/T—conflicting classifications of pathogenicity
rs77027752716:1,203,913G/C—uncertain significance
rs77596086416:1,203,914C/T—benign
rs196191504316:1,203,916C/T—uncertain significance
rs74973550316:1,203,917G/C—conflicting classifications of pathogenicity
rs159627098316:1,203,930G/A—uncertain significance
rs254847972516:1,203,931A/G—uncertain significance
rs105271288816:1,203,932C/T—likely benign
rs215160455116:1,203,947C/G—likely benign
rs77474873916:1,203,949C/G—uncertain significance
rs159627103416:1,203,954C/T—uncertain significance
rs254847992116:1,203,957G/T—uncertain significance
rs103925807916:1,203,958C/T—conflicting classifications of pathogenicity
rs155549821616:1,203,963G/A—uncertain significance
rs142870613216:1,203,966G/T—uncertain significance
rs90076867816:1,203,967C/T—conflicting classifications of pathogenicity
rs147312268816:1,203,970C/T—uncertain significance
rs99498426416:1,203,974C/G—likely benign
rs137200277016:1,203,975T/G—conflicting classifications of pathogenicity
rs77215009116:1,203,977C/T—benign
rs130201619716:1,203,978T/C—uncertain significance
rs55730382416:1,203,980C/T—likely benign
rs143692022716:1,203,982G/A—benign
rs159627117216:1,203,983C/T—likely benign
rs137695303516:1,203,986C/G—likely benign
rs137560886116:1,203,987G/T—uncertain significance
rs77341366016:1,203,997C/T—uncertain significance
rs92172634816:1,203,999C/T—conflicting classifications of pathogenicity
rs137549134116:1,204,000G/A—uncertain significance
rs57723558916:1,204,007C/G—likely benign
rs103510336816:1,204,008A/G—uncertain significance
rs254848031716:1,204,009G/C—uncertain significance
rs104351116816:1,204,010C/G—uncertain significance
rs75371865616:1,204,017C/G—uncertain significance
rs96070359316:1,204,019C/T—likely benign
rs75927330016:1,204,020C/A—benign
rs131181445116:1,204,022G/C—likely benign
rs101267668516:1,204,034C/T—likely benign
rs141016564416:1,204,035C/T—uncertain significance
rs76518169316:1,204,036C/T—uncertain significance
rs254848064816:1,204,043T/A—uncertain significance
rs126105375116:1,204,046C/T—likely benign
rs53992470116:1,204,050C/G—likely benign
rs55347891016:1,204,051C/G—likely benign
rs123684619016:1,204,053G/A—likely benign

Showing 100 of 2,916 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.