CHRNB1

cholinergic receptor nicotinic beta 1 subunit

Summary

The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]

Known Variants392 total

rsidPosition (GRCh37)AllelesClassClinVar
rs55092613417:7,348,428C/T—uncertain significance
rs19990302617:7,348,434G/C—likely benign
rs106479583517:7,348,447A/Gmissense variantpathogenic
rs56701572017:7,348,451C/T—uncertain significance
rs75536830717:7,348,452C/T—likely benign
rs148199729117:7,348,455A/G—likely benign
rs78172943117:7,348,459G/A—uncertain significance
rs74853753317:7,348,467G/C—likely benign
rs250784493017:7,348,469T/G—uncertain significance
rs115722428317:7,348,472T/C—uncertain significance
rs190854337417:7,348,477G/A—uncertain significance
rs250784506017:7,348,484T/C—uncertain significance
rs77035936817:7,348,485G/C—conflicting classifications of pathogenicity
rs7592634217:7,348,490C/T—uncertain significance
rs135123006417:7,348,497C/T—likely benign
rs53438048317:7,348,499C/G—uncertain significance
rs75917679617:7,348,502C/A—uncertain significance
rs117353257417:7,348,505G/C—uncertain significance
rs250784526217:7,348,508A/G—uncertain significance
rs77188567517:7,348,516C/A—likely benign
rs190854807617:7,348,524G/A—likely benign
rs77046883217:7,348,575C/T—conflicting classifications of pathogenicity
rs77834271817:7,348,582C/T—likely benign
rs37204153117:7,348,586C/T—uncertain significance
rs77515029717:7,348,591G/A—uncertain significance
rs250784579017:7,348,592T/G—uncertain significance
rs74675398117:7,348,593C/T—likely benign
rs146201927517:7,348,597G/A—uncertain significance
rs76848406517:7,348,601C/T—uncertain significance
rs77663101817:7,348,608G/A—likely benign
rs76171741217:7,348,612G/A—uncertain significance
rs13804135117:7,348,614T/C—likely benign
rs76779951117:7,348,616G/C—uncertain significance
rs75301829917:7,348,620C/T—likely benign
rs250784595117:7,348,622G/A—uncertain significance
rs1785669717:7,348,625A/Gmissense variantbenign
rs118443414917:7,348,643A/T—uncertain significance
rs159774739417:7,348,659G/A—likely benign
rs3587210117:7,348,662A/G—likely benign
rs190855830117:7,348,663G/A—uncertain significance
rs77965491917:7,348,667G/A—uncertain significance
rs77623555017:7,348,675G/A—uncertain significance
rs250784627117:7,348,687A/G—likely benign
rs76957964517:7,348,695C/G—uncertain significance
rs87925534617:7,348,696G/A—uncertain significance
rs75966876817:7,348,697T/C—uncertain significance
rs120837881917:7,348,702C/T—uncertain significance
rs77584922417:7,348,713G/T—likely benign
rs190856230217:7,348,715A/C—uncertain significance
rs76103555617:7,348,717C/G—uncertain significance
rs76442390917:7,348,719C/T—likely benign
rs215083703017:7,348,722C/T—likely benign
rs96238962217:7,348,727T/G—uncertain significance
rs155555172517:7,348,731G/T—uncertain significance
rs127272267917:7,348,735G/T—likely benign
rs145292991917:7,348,736C/T—uncertain significance
rs91271100917:7,348,738C/G—likely benign
rs76561007517:7,348,742G/C—likely benign
rs19966534517:7,348,743G/A—conflicting classifications of pathogenicity
rs135186514817:7,348,745G/C—likely benign
rs6003813517:7,348,764G/T—benign
rs215083746717:7,349,375T/G—likely benign
rs57257648117:7,349,379C/T—likely benign
rs250784914017:7,349,380C/G—likely benign
rs20064869017:7,349,386A/C—conflicting classifications of pathogenicity
rs190859925517:7,349,403G/A—uncertain significance
rs75450693617:7,349,405G/C—uncertain significance
rs75243674917:7,349,410G/T—uncertain significance
rs14055629617:7,349,418G/T—uncertain significance
rs250784939617:7,349,422A/G—uncertain significance
rs14280170017:7,349,425T/C—uncertain significance
rs37353392117:7,349,429C/G—uncertain significance
rs138803288517:7,349,430C/G—uncertain significance
rs37638788617:7,349,446A/G—likely benign
rs36950400617:7,349,450G/T—uncertain significance
rs502536117:7,349,646C/G—benign
rs19964624517:7,349,650G/C—likely benign
rs11272701017:7,349,652G/C—likely benign
rs6206119417:7,349,654G/C—benign
rs11378239717:7,349,656G/C—benign
rs86647110517:7,349,658G/C—likely benign
rs6048322517:7,349,660G/C—benign
rs18728268017:7,349,691T/A—likely benign
rs14842393417:7,350,048G/A—likely benign
rs721505617:7,350,050C/A—benign
rs77350357017:7,350,138C/G—likely benign
rs76682387217:7,350,156G/A—conflicting classifications of pathogenicity
rs155555183817:7,350,165A/G—uncertain significance
rs75573270817:7,350,179G/A—uncertain significance
rs75364614517:7,350,186C/G—uncertain significance
rs77896874717:7,350,194G/T—uncertain significance
rs143228807017:7,350,196C/A—uncertain significance
rs97660547917:7,350,207C/T—uncertain significance
rs37609920417:7,350,208G/A—likely benign
rs190865581317:7,350,209C/T—uncertain significance
rs102868745017:7,350,210T/C—uncertain significance
rs74818338317:7,350,211C/T—likely benign
rs95397073917:7,350,212C/T—uncertain significance
rs20191508617:7,350,213G/C—conflicting classifications of pathogenicity
rs250785353017:7,350,214C/T—likely benign

Showing 100 of 392 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.