ENO3

enolase 3

Summary

This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010]

Known Variants281 total

rsidPosition (GRCh37)AllelesClassClinVar
rs38790726417:4,850,037A/Cmissense variantpathogenic
rs7334337317:4,854,392G/A—likely benign
rs36657717:4,854,480T/C—likely benign
rs18851002117:4,854,492C/G—likely benign
rs105752381817:4,855,114G/C—likely benign
rs75426084017:4,855,127G/A—uncertain significance
rs117473656317:4,855,130C/T—likely benign
rs13821116717:4,855,135A/C—uncertain significance
rs37748271417:4,855,146G/A—uncertain significance
rs78024529617:4,855,149C/T—uncertain significance
rs14721641817:4,855,158T/C—likely benign
rs250770239117:4,855,163C/T—likely benign
rs19994998217:4,855,170G/C—uncertain significance
rs197155070217:4,855,173A/G—uncertain significance
rs20149992517:4,855,180C/T—uncertain significance
rs14867322117:4,855,188G/A—uncertain significance
rs37357134817:4,855,190G/A—likely benign
rs19967791317:4,855,201C/T—uncertain significance
rs75870468017:4,855,202G/A—likely benign
rs76631095517:4,855,203G/A—uncertain significance
rs75163963117:4,855,207A/C—uncertain significance
rs250770264117:4,855,213A/T—uncertain significance
rs54106288217:4,855,223C/T—likely benign
rs75704455317:4,855,224A/T—likely benign
rs11271888117:4,855,824T/C—benign
rs11593887617:4,855,947C/T—benign
rs78078186617:4,856,072C/T—likely benign
rs143996106117:4,856,078C/T—likely benign
rs20157180217:4,856,080C/T—likely benign
rs77131938317:4,856,091C/A—likely benign
rs20185987917:4,856,092C/T—uncertain significance
rs36756542017:4,856,096T/A—uncertain significance
rs76412038017:4,856,098C/T—uncertain significance
rs37682173017:4,856,099G/A—uncertain significance
rs159769813117:4,856,103A/T—likely benign
rs131789014717:4,856,107G/A—uncertain significance
rs250770557617:4,856,109G/A—likely benign
rs76621757217:4,856,112C/T—likely benign
rs14110374217:4,856,119G/A—uncertain significance
rs96398216817:4,856,135A/G—uncertain significance
rs197158790917:4,856,136T/C—likely benign
rs97701464617:4,856,139G/A—likely benign
rs77721347317:4,856,146G/A—uncertain significance
rs250770590117:4,856,155G/T—uncertain significance
rs74974846117:4,856,157C/T—likely benign
rs75776989317:4,856,158G/A—uncertain significance
rs74625909717:4,856,163C/A—uncertain significance
rs13907344517:4,856,170C/T—uncertain significance
rs20079391917:4,856,190G/A—likely benign
rs37513764317:4,856,201C/T—likely benign
rs36838192617:4,856,202G/A—likely benign
rs11434111017:4,856,312T/C—likely benign
rs215114053617:4,856,328A/G—likely benign
rs55706879017:4,856,330C/T—likely benign
rs77439564417:4,856,331C/T—likely benign
rs77515523517:4,856,339T/C—likely benign
rs197159925917:4,856,346G/A—uncertain significance
rs57418133517:4,856,350C/T—likely benign
rs37754595417:4,856,365G/A—likely benign
rs14640828417:4,856,373A/G—uncertain significance
rs74841689317:4,856,375A/G—uncertain significance
rs23823817:4,856,376A/Gmissense variantbenign
rs14394597417:4,856,390G/C—benign
rs77193791617:4,856,392T/G—likely benign
rs37424624117:4,856,399C/T—uncertain significance
rs98031853417:4,856,404G/A—uncertain significance
rs76854051217:4,856,412G/A—uncertain significance
rs125160008917:4,856,413G/A—likely benign
rs155555359617:4,856,417G/T—not provided
rs92624021517:4,856,420C/T—likely benign
rs7527966617:4,856,421G/A—benign
rs250770713417:4,856,422C/T—likely benign
rs76151227617:4,856,424C/G—likely benign
rs7759211517:4,856,466C/G—benign
rs76946577617:4,856,556C/T—likely benign
rs14585930817:4,856,575C/T—conflicting classifications of pathogenicity
rs23823917:4,856,580C/T—benign
rs20060821117:4,856,581G/A—likely benign
rs75311434617:4,856,588G/T—uncertain significance
rs250770794817:4,856,606A/G—uncertain significance
rs159769932517:4,856,622G/A—uncertain significance
rs76439102417:4,856,624A/T—uncertain significance
rs118764754217:4,856,626C/T—likely benign
rs11329870617:4,856,637G/C—uncertain significance
rs143828395517:4,856,639G/A—uncertain significance
rs54980653517:4,856,643G/A—likely benign
rs77033352117:4,856,647G/C—likely benign
rs37189566217:4,856,649C/T—likely benign
rs76816362417:4,856,654G/A—likely benign
rs23824017:4,856,812C/G—benign
rs197162396817:4,856,992C/T—likely benign
rs14374950217:4,857,022A/G—uncertain significance
rs94123682817:4,857,035C/T—likely benign
rs76132344317:4,857,036G/A—uncertain significance
rs76190378817:4,857,047C/T—likely benign
rs75407760817:4,857,048G/A—uncertain significance
rs250770972117:4,857,050G/C—likely benign
rs75743821617:4,857,056G/C—uncertain significance
rs20187255817:4,857,059G/A—conflicting classifications of pathogenicity
rs76298601317:4,857,074G/C—uncertain significance

Showing 100 of 281 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.