CHRNE

cholinergic receptor nicotinic epsilon subunit

Summary

Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]

Known Variants902 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11680219917:4,801,101A/C—benign
rs991435717:4,801,125C/G—benign
rs54906472317:4,801,128C/T—uncertain significance
rs36914519917:4,801,129G/A—uncertain significance
rs19223833117:4,801,155C/T—uncertain significance
rs88605311217:4,801,156G/A—uncertain significance
rs777417:4,801,163C/A—benign
rs37566034917:4,801,173C/G—likely benign
rs57583670717:4,801,176G/A—uncertain significance
rs76125628917:4,801,179C/T—uncertain significance
rs883417:4,801,194C/T—benign
rs88605311317:4,801,195G/A—uncertain significance
rs88605311417:4,801,225C/T—uncertain significance
rs11336671817:4,801,226A/C—uncertain significance
rs53639830017:4,801,283C/T—benign
rs105375117:4,801,286C/T—benign
rs105375417:4,801,288A/C—benign
rs88605311717:4,801,409G/A—uncertain significance
rs14455424817:4,801,421G/A—benign
rs88605311817:4,801,434C/T—uncertain significance
rs88605311917:4,801,441G/A—uncertain significance
rs56454905417:4,801,459G/C—uncertain significance
rs88605312017:4,801,475G/A—uncertain significance
rs351417:4,801,594C/G—benign
rs133787025817:4,801,643G/A—uncertain significance
rs88605312117:4,801,648C/T—uncertain significance
rs55168456817:4,801,665C/T—uncertain significance
rs159761152717:4,801,702A/T—uncertain significance
rs77996968817:4,801,716A/C—uncertain significance
rs55125186017:4,801,764G/A—uncertain significance
rs54839578517:4,801,825C/T—uncertain significance
rs1293608317:4,801,887A/G—benign
rs53868790117:4,801,906G/A—uncertain significance
rs5606798117:4,801,966G/A—benign
rs1294003617:4,801,970G/A—benign
rs222920017:4,801,988A/G—likely benign
rs75576465217:4,801,993C/T—uncertain significance
rs222919917:4,801,994C/T—likely benign
rs37164985517:4,802,007G/A—uncertain significance
rs5580627017:4,802,025T/C—likely benign
rs74756629517:4,802,026G/A—conflicting classifications of pathogenicity
rs97295641617:4,802,033A/G—uncertain significance
rs250929886617:4,802,034A/C—likely benign
rs76403338917:4,802,040G/A—likely benign
rs75351261317:4,802,042T/C—uncertain significance
rs95022559217:4,802,046C/A—likely benign
rs57592004317:4,802,047G/A—uncertain significance
rs137295396017:4,802,050G/A—uncertain significance
rs78059295117:4,802,051C/T—likely benign
rs37329378117:4,802,052G/T—uncertain significance
rs76897719717:4,802,055G/A—likely benign
rs196981784317:4,802,056G/A—likely pathogenic
rs36991665617:4,802,058G/A—likely benign
rs108530769017:4,802,060G/A—uncertain significance
rs37457735417:4,802,063C/G—uncertain significance
rs37671309517:4,802,067C/T—conflicting classifications of pathogenicity
rs215109339917:4,802,070T/G—likely benign
rs52858491117:4,802,071C/A—uncertain significance
rs77555064217:4,802,072G/A—uncertain significance
rs76073836217:4,802,074T/C—uncertain significance
rs76394364217:4,802,079G/T—conflicting classifications of pathogenicity
rs54547368617:4,802,082G/A—likely benign
rs196981993417:4,802,085C/A—likely benign
rs15119337717:4,802,088G/A—likely benign
rs76493567717:4,802,089A/T—uncertain significance
rs75009778917:4,802,094G/C—uncertain significance
rs14545658817:4,802,097G/A—conflicting classifications of pathogenicity
rs37279205917:4,802,100G/A—likely benign
rs215109345117:4,802,103G/A—likely benign
rs37717893817:4,802,106G/A—likely benign
rs134683008317:4,802,107C/A—uncertain significance
rs250929939417:4,802,109C/G—likely benign
rs13917114317:4,802,111C/T—conflicting classifications of pathogenicity
rs77012324517:4,802,112G/A—likely benign
rs77804264817:4,802,114T/C—uncertain significance
rs120744431617:4,802,118G/A—likely benign
rs77101653417:4,802,123C/T—uncertain significance
rs56159178917:4,802,125A/C—likely pathogenic
rs250929952317:4,802,126G/A—likely benign
rs57037854717:4,802,130G/C—conflicting classifications of pathogenicity
rs141938437117:4,802,131G/A—uncertain significance
rs147536367617:4,802,132C/A—uncertain significance
rs155554609617:4,802,133C/T—pathogenic
rs115783684717:4,802,134C/T—pathogenic
rs148656758017:4,802,136G/A—likely benign
rs76871714217:4,802,137A/C—uncertain significance
rs20103078417:4,802,139G/A—conflicting classifications of pathogenicity
rs136157818717:4,802,143A/G—uncertain significance
rs137481879717:4,802,145G/A—likely benign
rs196982313717:4,802,148G/A—likely benign
rs95429842917:4,802,150C/T—uncertain significance
rs250929973317:4,802,151A/G—likely benign
rs141285579717:4,802,154G/A—likely benign
rs156763546917:4,802,155G/A—uncertain significance
rs76165177217:4,802,163C/T—uncertain significance
rs250929980517:4,802,167C/T—uncertain significance
rs14908363917:4,802,168G/A—uncertain significance
rs14309885917:4,802,169C/G—likely benign
rs196982449317:4,802,170A/G—uncertain significance
rs91883987417:4,802,172C/T—pathogenic

Showing 100 of 902 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.