CHRNA4

cholinergic receptor nicotinic alpha 4 subunit

Summary

This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

Known Variants851 total

rsidPosition (GRCh37)AllelesClassClinVar
rs452266620:61,974,480G/Adownstream gene variant—
rs223619620:61,977,556G/Aregulatory region variantbenign
rs20104149220:61,977,789G/A—benign
rs4550939120:61,977,834C/T—likely benign
rs18715306020:61,977,835G/A—benign
rs11345836120:61,977,838G/A—benign
rs19200698120:61,977,872A/C—benign
rs20098707920:61,977,873G/C—benign
rs19987910920:61,977,946C/G—benign
rs20135471120:61,977,976G/A—benign
rs77093628120:61,978,071G/A—likely benign
rs20109783920:61,978,085C/G—likely benign
rs87885414220:61,978,107G/A—likely benign
rs251652717920:61,978,110A/G—uncertain significance
rs19985269020:61,978,113G/T—conflicting classifications of pathogenicity
rs20220331720:61,978,114C/T—likely benign
rs75434083420:61,978,115G/A—uncertain significance
rs121886578120:61,978,116G/A—uncertain significance
rs251652723020:61,978,119G/A—likely benign
rs156880521520:61,978,120G/C—uncertain significance
rs251652725720:61,978,126G/C—likely benign
rs79605232420:61,978,127C/A—uncertain significance
rs72750387120:61,978,132C/T—conflicting classifications of pathogenicity
rs15090569020:61,978,133G/A—uncertain significance
rs20116819520:61,978,149C/A—uncertain significance
rs74802718220:61,978,150G/A—likely benign
rs77439463720:61,978,159C/T—likely benign
rs212346375920:61,978,160A/T—uncertain significance
rs212346377420:61,978,171G/A—likely benign
rs74615107920:61,978,173T/C—uncertain significance
rs206850370620:61,978,174G/A—likely benign
rs75268609520:61,978,175C/T—uncertain significance
rs101961238920:61,978,182T/C—uncertain significance
rs20069804120:61,978,188T/C—uncertain significance
rs206850416520:61,978,192C/T—likely benign
rs37088760220:61,978,194C/T—conflicting classifications of pathogenicity
rs20134759820:61,978,195G/A—likely benign
rs117196586920:61,978,197A/C—uncertain significance
rs74993938320:61,978,209C/T—conflicting classifications of pathogenicity
rs251652765720:61,978,215C/G—uncertain significance
rs37435469820:61,978,219C/T—conflicting classifications of pathogenicity
rs4544019220:61,978,229C/T—benign
rs75116336120:61,978,230G/A—likely benign
rs137965975320:61,978,231C/T—likely benign
rs20173561520:61,978,232C/G—uncertain significance
rs36812557020:61,978,233G/A—likely benign
rs37014717220:61,978,234T/G—uncertain significance
rs20096530420:61,978,250C/A—likely benign
rs609038020:61,978,524C/T—benign
rs378713720:61,979,100G/Aregulatory region variant—
rs7757300920:61,980,767C/T—likely benign
rs389905320:61,980,813C/G—benign
rs11442622020:61,980,814G/A—benign
rs19977740520:61,980,976C/T—likely benign
rs128104893020:61,980,988C/T—likely benign
rs11310961520:61,980,989C/T—benign
rs382702020:61,980,991C/T—benign
rs4544239420:61,980,994G/A—benign
rs4547830020:61,980,995C/T—likely benign
rs20223563720:61,980,996G/A—likely benign
rs56472033920:61,980,997G/A—likely benign
rs20105429520:61,981,004C/A—uncertain significance
rs19966242920:61,981,005C/T—uncertain significance
rs20064487220:61,981,006G/A—conflicting classifications of pathogenicity
rs141936804320:61,981,011G/A—likely benign
rs20172730720:61,981,017G/A—likely benign
rs76716546620:61,981,021T/C—conflicting classifications of pathogenicity
rs75228994820:61,981,022C/T—conflicting classifications of pathogenicity
rs37707178420:61,981,023G/A—benign
rs106479526520:61,981,025C/T—uncertain significance
rs19950632420:61,981,031G/A—likely benign
rs251653644020:61,981,034G/A—uncertain significance
rs121826505620:61,981,035G/T—uncertain significance
rs53790449920:61,981,037C/G—conflicting classifications of pathogenicity
rs13965712120:61,981,042A/G—conflicting classifications of pathogenicity
rs74832879620:61,981,043T/C—uncertain significance
rs212346962520:61,981,044G/T—uncertain significance
rs11379445320:61,981,048T/C—conflicting classifications of pathogenicity
rs12191228520:61,981,052C/T—likely benign
rs125902632220:61,981,053G/A—likely benign
rs77146841920:61,981,055C/G—likely benign
rs137336472420:61,981,062C/T—likely benign
rs7689519820:61,981,063G/A—conflicting classifications of pathogenicity
rs20081008020:61,981,066C/T—conflicting classifications of pathogenicity
rs20167491420:61,981,067G/A—conflicting classifications of pathogenicity
rs251653670420:61,981,071C/G—likely benign
rs37417225620:61,981,074G/A—likely benign
rs7805004220:61,981,077C/T—likely benign
rs20075036220:61,981,078G/A—conflicting classifications of pathogenicity
rs75026566620:61,981,080C/T—likely benign
rs19994913520:61,981,081G/A—conflicting classifications of pathogenicity
rs93174154520:61,981,082A/G—uncertain significance
rs76766238820:61,981,086G/A—likely benign
rs128233662320:61,981,093T/G—uncertain significance
rs20104633320:61,981,095C/A—likely benign
rs7734564320:61,981,096G/A—conflicting classifications of pathogenicity
rs89016889420:61,981,097G/T—uncertain significance
rs19982990220:61,981,098G/A—likely benign
rs75751085920:61,981,100G/A—uncertain significance
rs12191228420:61,981,101C/T—likely benign

Showing 100 of 851 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.