CHRNB2

cholinergic receptor nicotinic beta 2 subunit

Summary

Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]

Known Variants481 total

rsidPosition (GRCh37)AllelesClassClinVar
rs716516961:154,540,015C/G—benign
rs769249191:154,540,067C/A—benign
rs20726581:154,540,225A/G—likely benign
rs120620491:154,540,307A/G—benign
rs557998081:154,540,466C/T—benign
rs22807811:154,540,468C/T—benign
rs1118626601:154,540,470C/A—likely benign
rs5514848221:154,540,472G/C—benign
rs7616494431:154,540,482C/G—benign
rs10575216241:154,540,484A/C—likely benign
rs3730544221:154,540,518G/A—conflicting classifications of pathogenicity
rs21493657281:154,540,521A/T—uncertain significance
rs14302796521:154,540,522T/A—uncertain significance
rs21493657301:154,540,524G/T—uncertain significance
rs7459322341:154,540,527C/T—uncertain significance
rs16960933651:154,540,530C/A—uncertain significance
rs7687644851:154,540,532C/G—likely benign
rs12610476291:154,540,533T/G—uncertain significance
rs21493657411:154,540,534G/C—uncertain significance
rs13045885301:154,540,537G/A—uncertain significance
rs15710190721:154,540,538C/G—likely benign
rs7696542131:154,540,541C/G—likely benign
rs7728159721:154,540,542G/C—uncertain significance
rs7626602601:154,540,547G/T—likely benign
rs14038537641:154,540,550G/A—likely benign
rs9277571821:154,540,553C/G—likely benign
rs7705559061:154,540,562C/T—likely benign
rs16960946471:154,540,570T/A—uncertain significance
rs14866967411:154,540,574G/T—likely benign
rs21493657701:154,540,577G/A—likely benign
rs25263596071:154,540,578T/C—uncertain significance
rs14427008611:154,540,580C/T—likely benign
rs25263596271:154,540,581T/C—uncertain significance
rs25263596371:154,540,583A/G—uncertain significance
rs11649992921:154,540,587A/G—uncertain significance
rs15532038651:154,540,590G/C—uncertain significance
rs25263596651:154,540,593A/G—likely benign
rs7532666351:154,540,597C/T—likely benign
rs1879767771:154,540,598G/T—likely benign
rs14376399961:154,540,601C/T—likely benign
rs120622261:154,540,717A/G—benign
rs3740656371:154,540,769G/A—likely benign
rs1166450521:154,540,828C/T—likely benign
rs1383986181:154,541,717A/G—likely benign
rs81924841:154,541,839A/T—likely benign
rs7747997311:154,541,929C/T—likely benign
rs25263628391:154,541,936A/G—uncertain significance
rs7613162381:154,541,938G/A—uncertain significance
rs16961212941:154,541,942G/A—likely benign
rs7644983881:154,541,948T/C—likely benign
rs716516921:154,541,950C/T—likely benign
rs1434020321:154,541,951G/A—likely benign
rs21493661201:154,541,955A/G—uncertain significance
rs1999195251:154,541,961G/A—uncertain significance
rs1459268531:154,541,964C/T—uncertain significance
rs7584929741:154,541,965G/A—uncertain significance
rs15710202661:154,541,969G/A—uncertain significance
rs10647956951:154,541,970G/A—uncertain significance
rs1416891211:154,541,978T/A—likely benign
rs15578507471:154,541,979C/T—uncertain significance
rs21493661381:154,541,981C/T—likely benign
rs716516931:154,541,982C/T—likely benign
rs11748343701:154,541,994C/T—uncertain significance
rs1999998621:154,541,995G/A—conflicting classifications of pathogenicity
rs2011713521:154,541,996C/T—likely benign
rs7455201391:154,542,002C/T—likely benign
rs7751282151:154,542,011C/T—likely benign
rs7464808331:154,542,012C/T—conflicting classifications of pathogenicity
rs7692495831:154,542,013G/A—uncertain significance
rs25263632051:154,542,019C/T—uncertain significance
rs7623637701:154,542,022C/T—uncertain significance
rs1499212591:154,542,023C/T—likely benign
rs7507975781:154,542,025A/G—uncertain significance
rs15532040151:154,542,027G/A—uncertain significance
rs14257956151:154,542,039G/C—uncertain significance
rs14830699371:154,542,043C/T—uncertain significance
rs25263633181:154,542,047A/G—likely benign
rs16961252971:154,542,048C/T—uncertain significance
rs25263633261:154,542,050G/A—likely benign
rs16961253801:154,542,057G/A—uncertain significance
rs7737067341:154,542,074C/T—likely benign
rs15710204151:154,542,086G/A—likely benign
rs39261241:154,542,092A/G—benign
rs2001965831:154,542,093G/A—likely benign
rs12461899591:154,542,098C/T—likely benign
rs7680750221:154,542,248G/C—likely benign
rs5550352631:154,542,253T/C—likely benign
rs2015149371:154,542,255T/C—benign
rs25263640011:154,542,260C/T—likely benign
rs16961297671:154,542,261C/A—likely benign
rs25263640091:154,542,262C/T—likely benign
rs14596684511:154,542,265C/A—uncertain significance
rs7960523251:154,542,269A/G—uncertain significance
rs7631940961:154,542,270T/G—likely benign
rs7712864191:154,542,274C/T—uncertain significance
rs7744554621:154,542,275G/A—uncertain significance
rs3685835391:154,542,279G/C—uncertain significance
rs21493662481:154,542,280C/G—uncertain significance
rs16961301431:154,542,281A/C—uncertain significance
rs15710206201:154,542,297T/C—likely benign

Showing 100 of 481 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.