KCNMA1

potassium calcium-activated channel subfamily M alpha 1

Summary

This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release and neuronal excitability. Mutations in this gene are associated with a spectrum of neurological disorders including Paroxysmal Nonkinesigenic Dyskinesia 3, Idiopathic Generalized Epilepsy 16 and Liang-Wang syndrome. [provided by RefSeq, Aug 2022]

Known Variants1,061 total

rsidPosition (GRCh37)AllelesClassClinVar
rs20075703910:78,637,646T/C—uncertain significance
rs20176337610:78,637,657G/T—likely benign
rs7971341410:78,638,367G/C——
rs19976411510:78,644,698G/T—uncertain significance
rs4128154810:78,644,699A/T—uncertain significance
rs88604725710:78,644,746C/T—uncertain significance
rs56023654710:78,644,798T/C—uncertain significance
rs20106700310:78,644,841G/A—likely benign
rs7705150910:78,644,886G/A—likely benign
rs88604725810:78,644,907C/A—uncertain significance
rs707301510:78,645,067G/A—benign
rs88604725910:78,645,087A/C—uncertain significance
rs88604726010:78,645,089T/C—uncertain significance
rs88604726110:78,645,137C/T—uncertain significance
rs8018949810:78,645,259A/G—likely benign
rs18446819810:78,645,285C/A—uncertain significance
rs20120142510:78,645,391G/A—uncertain significance
rs1076273310:78,645,453A/G—benign
rs20049334410:78,645,495G/A—uncertain significance
rs143084202010:78,645,517C/T—uncertain significance
rs14781652710:78,645,709G/A—likely benign
rs7808291810:78,645,736T/A—likely benign
rs20004592110:78,645,740A/G—uncertain significance
rs14146650710:78,645,781A/G—likely benign
rs20043580110:78,645,822G/T—uncertain significance
rs88604726210:78,645,859G/A—uncertain significance
rs203679978710:78,645,893G/T—uncertain significance
rs19970689610:78,645,924G/A—likely benign
rs88604726310:78,645,999C/G—uncertain significance
rs20095543010:78,646,018C/T—uncertain significance
rs7664461810:78,646,092C/A—likely benign
rs19981998410:78,646,162T/C—uncertain significance
rs54374027910:78,646,190A/G—uncertain significance
rs14528906410:78,646,334G/T—likely benign
rs7413984610:78,646,390G/C—likely benign
rs88604726410:78,646,454A/G—uncertain significance
rs88604726510:78,646,485A/G—uncertain significance
rs74872602910:78,646,493G/A—uncertain significance
rs20093395710:78,646,527T/C—uncertain significance
rs211683010:78,646,536G/Tdownstream gene variantbenign
rs4128155010:78,646,630G/T—conflicting classifications of pathogenicity
rs707870210:78,646,703G/A—likely benign
rs88604726710:78,646,801T/C—uncertain significance
rs20180844010:78,646,895A/C—uncertain significance
rs55736445510:78,646,909G/T—uncertain significance
rs203746669010:78,646,955T/C—uncertain significance
rs20032609710:78,646,974G/A—uncertain significance
rs77469919210:78,647,003C/T—uncertain significance
rs20087331210:78,647,009C/T—uncertain significance
rs7584396910:78,647,031C/T—conflicting classifications of pathogenicity
rs13937024910:78,647,032G/A—uncertain significance
rs77973915910:78,647,038C/T—conflicting classifications of pathogenicity
rs254799816410:78,647,042C/A—likely benign
rs19956932610:78,647,045G/T—uncertain significance
rs15002368610:78,647,054T/C—likely benign
rs20041017110:78,647,061C/T—uncertain significance
rs14864898610:78,647,062G/A—uncertain significance
rs137034918010:78,647,065A/G—uncertain significance
rs19976637610:78,647,071T/C—uncertain significance
rs131318135910:78,647,074A/T—uncertain significance
rs144523249910:78,647,081C/T—conflicting classifications of pathogenicity
rs20072399510:78,647,082C/T—uncertain significance
rs20170351610:78,647,083G/A—uncertain significance
rs19967898910:78,647,084G/C—uncertain significance
rs56396775710:78,647,085T/C—conflicting classifications of pathogenicity
rs76080678710:78,647,091C/T—uncertain significance
rs76915122910:78,647,092G/A—uncertain significance
rs156471077510:78,647,094T/C—uncertain significance
rs215170543310:78,647,098C/T—uncertain significance
rs20077308310:78,647,100G/A—uncertain significance
rs76565415010:78,647,101T/C—uncertain significance
rs104076137610:78,647,102G/A—likely benign
rs254800399910:78,647,105T/C—likely benign
rs20192444510:78,647,108G/A—conflicting classifications of pathogenicity
rs254800441610:78,647,110T/C—uncertain significance
rs254800450610:78,647,112G/T—uncertain significance
rs158955055910:78,647,114G/A—likely benign
rs147639950510:78,647,116G/T—uncertain significance
rs203756984310:78,647,124G/A—uncertain significance
rs254800583710:78,647,127C/A—uncertain significance
rs203757327810:78,647,132C/T—likely benign
rs98551788010:78,647,137T/C—uncertain significance
rs76388250810:78,647,145T/C—uncertain significance
rs7513866110:78,647,147C/T—conflicting classifications of pathogenicity
rs75460227610:78,647,148G/A—uncertain significance
rs20106787210:78,647,150C/T—likely benign
rs20202424910:78,647,151G/A—uncertain significance
rs158955148410:78,647,154T/C—uncertain significance
rs254800820110:78,647,156G/A—likely benign
rs77759574810:78,647,157G/A—uncertain significance
rs254800847210:78,647,160G/A—uncertain significance
rs215170798410:78,647,164G/A—uncertain significance
rs130539389410:78,647,166G/C—uncertain significance
rs20014120710:78,647,178C/T—uncertain significance
rs74702921810:78,647,179G/A—uncertain significance
rs254800964110:78,647,186G/A—likely benign
rs54936093310:78,647,188C/G—uncertain significance
rs20076366110:78,647,189G/A—likely benign
rs254801020810:78,647,194T/C—uncertain significance
rs203760719510:78,647,221T/A—uncertain significance

Showing 100 of 1,061 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.