CHRNG

cholinergic receptor nicotinic gamma subunit

Summary

The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009]

Known Variants408 total

rsidPosition (GRCh37)AllelesClassClinVar
rs779987092:233,404,138C/T—likely benign
rs1460146742:233,404,275A/T—likely benign
rs116746082:233,404,294C/G—benign
rs7755925462:233,404,462A/T—uncertain significance
rs24697450652:233,404,463T/C—likely benign
rs9150251082:233,404,466G/C—likely benign
rs9451149272:233,404,469C/A—likely benign
rs2676067252:233,404,470C/Tstop gainedpathogenic
rs2006612572:233,404,477C/T—likely benign
rs1389916402:233,404,478G/A—likely benign
rs24697451112:233,404,481G/A—likely benign
rs3718354182:233,404,487C/T—likely benign
rs16919749732:233,404,490G/A—likely benign
rs7862055492:233,404,513G/A—pathogenic
rs24697451682:233,404,517G/A—pathogenic
rs14178627572:233,404,519C/G—likely benign
rs5573057392:233,404,524A/G—likely benign
rs7658345712:233,404,525G/A—likely benign
rs129963222:233,404,590G/C—benign
rs24697453802:233,404,682C/G—likely benign
rs1391274352:233,404,686C/T—benign
rs7735829312:233,404,687G/A—likely benign
rs24697453972:233,404,689C/T—likely benign
rs7609201432:233,404,693C/G—likely benign
rs24697454102:233,404,700A/G—pathogenic
rs12654933192:233,404,701G/A—pathogenic
rs7534217282:233,404,703G/C—conflicting classifications of pathogenicity
rs15746428672:233,404,708A/G—uncertain significance
rs3741883672:233,404,713C/T—uncertain significance
rs7777797302:233,404,715G/A—likely benign
rs1434181262:233,404,718C/T—likely benign
rs2014533162:233,404,720A/T—uncertain significance
rs16919812182:233,404,727G/A—likely benign
rs1406237632:233,404,728C/T—conflicting classifications of pathogenicity
rs21062197732:233,404,732T/A—uncertain significance
rs7789124012:233,404,736C/T—likely benign
rs7726047252:233,404,744T/C—uncertain significance
rs7735742262:233,404,749C/T—pathogenic
rs13766366712:233,404,757C/T—likely benign
rs12260997552:233,404,766C/T—likely benign
rs7704668632:233,404,770C/A—likely benign
rs1484686282:233,404,771G/A—conflicting classifications of pathogenicity
rs1512767882:233,404,775C/T—conflicting classifications of pathogenicity
rs1865890832:233,404,776G/A—conflicting classifications of pathogenicity
rs1404623422:233,404,777C/T—uncertain significance
rs1414026832:233,404,778G/A—conflicting classifications of pathogenicity
rs1219126722:233,404,782C/Tstop gainedpathogenic
rs7551483482:233,404,783G/A—uncertain significance
rs1431537502:233,404,790G/A—likely benign
rs15746429932:233,404,793T/C—likely benign
rs16919838862:233,404,796G/A—likely benign
rs3763148182:233,404,813A/C—uncertain significance
rs7474107222:233,404,820C/T—likely benign
rs16919846642:233,404,823C/A—likely benign
rs12786245052:233,404,826C/T—likely benign
rs7768144622:233,404,829C/A—uncertain significance
rs7455478322:233,404,840T/C—uncertain significance
rs3738409462:233,404,848C/T—likely benign
rs7626189052:233,404,849G/A—likely benign
rs11720634392:233,404,853G/A—likely benign
rs2006405102:233,404,855C/T—conflicting classifications of pathogenicity
rs7743580952:233,404,856G/A—likely benign
rs24697457522:233,404,858A/G—likely benign
rs1474573232:233,404,860G/A—likely benign
rs13893322912:233,405,071C/T—likely benign
rs1419795122:233,405,074C/T—likely benign
rs24697461942:233,405,078C/T—likely benign
rs1826359532:233,405,082C/T—conflicting classifications of pathogenicity
rs1864058092:233,405,084C/A—likely benign
rs1489827522:233,405,093C/T—likely benign
rs5445521942:233,405,094G/A—uncertain significance
rs12849396722:233,405,096G/A—likely benign
rs7642667222:233,405,097C/T—pathogenic
rs7573397152:233,405,098G/A—uncertain significance
rs24697462502:233,405,102G/A—likely benign
rs2020527892:233,405,119A/G—uncertain significance
rs14475630942:233,405,120T/C—likely benign
rs16919924642:233,405,129A/T—uncertain significance
rs12229994522:233,405,134T/C—uncertain significance
rs24697463152:233,405,137T/C—likely pathogenic
rs7731413262:233,405,144C/T—likely benign
rs15746432522:233,405,146A/C—likely benign
rs9185352172:233,405,148C/A—likely benign
rs24697463382:233,405,149C/G—likely benign
rs7605517472:233,405,152C/A—likely benign
rs24697463482:233,405,154A/C—likely benign
rs24697465232:233,405,292A/G—likely benign
rs14729088942:233,405,299C/A—likely benign
rs7509891422:233,405,301T/C—likely benign
rs2003190082:233,405,306C/A—likely benign
rs168291982:233,405,307T/C—likely benign
rs15746433422:233,405,312C/T—pathogenic
rs3767442392:233,405,320C/T—likely benign
rs7715881312:233,405,321G/A—uncertain significance
rs7772194512:233,405,327C/Tmissense variantpathogenic
rs5505216072:233,405,328G/A—conflicting classifications of pathogenicity
rs24697466002:233,405,329C/T—likely benign
rs9790365462:233,405,332G/C—likely benign
rs7620461592:233,405,343C/G—uncertain significance
rs7734631962:233,405,344G/A—likely benign

Showing 100 of 408 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.