GNAO1

G protein subunit alpha o1

Summary

The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

Known Variants406 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13963379816:56,224,940G/A—likely benign
rs18887052516:56,225,025G/A—benign
rs11382732216:56,225,036G/A—benign
rs57007216216:56,225,125G/C—likely benign
rs53739579216:56,225,131G/T—benign
rs250652926816:56,226,151G/C—likely pathogenic
rs121053412616:56,226,156T/C—likely benign
rs250652930816:56,226,164G/T—pathogenic
rs139637068916:56,226,168A/G—likely benign
rs214327024716:56,226,171G/A—likely benign
rs13933493416:56,226,174G/A—likely benign
rs124399339716:56,226,180C/T—likely benign
rs159678736516:56,226,183C/T—likely benign
rs155549976816:56,226,185T/C—likely pathogenic
rs128842993216:56,226,201G/A—conflicting classifications of pathogenicity
rs250652943216:56,226,203T/A—uncertain significance
rs250652943816:56,226,204T/G—likely pathogenic
rs203618270116:56,226,205G/A—conflicting classifications of pathogenicity
rs121522828616:56,226,213C/T—likely benign
rs250652949716:56,226,214C/T—likely pathogenic
rs18281240416:56,226,222G/A—likely benign
rs214327043316:56,226,223G/A—uncertain significance
rs214327045716:56,226,231C/T—likely benign
rs214327047116:56,226,236C/T—uncertain significance
rs250652962416:56,226,238G/T—uncertain significance
rs250652965716:56,226,243A/G—likely benign
rs118298162816:56,226,249G/T—likely benign
rs250652971716:56,226,258C/T—likely benign
rs214327053416:56,226,262C/T—uncertain significance
rs155549976916:56,226,263T/C—conflicting classifications of pathogenicity
rs74756591016:56,226,264C/T—uncertain significance
rs88604171516:56,226,265G/Amissense variantpathogenic
rs203618332916:56,226,268A/G—likely benign
rs37278785516:56,226,273C/T—likely benign
rs115637812216:56,226,274C/T—likely benign
rs250652991516:56,226,285C/A—likely benign
rs76287254316:56,226,297G/C—likely benign
rs11355099416:56,226,317C/G—likely benign
rs250653155016:56,226,468C/T—likely benign
rs75919254016:56,226,469T/C—likely benign
rs76963411216:56,226,472C/G—likely benign
rs214327193816:56,226,474G/A—likely benign
rs214327194816:56,226,476G/A—benign
rs77521275916:56,226,481A/G—likely benign
rs88604176616:56,226,486G/Tmissense variantpathogenic
rs203618762316:56,226,488G/A—uncertain significance
rs214327204616:56,226,491G/A—pathogenic
rs203618772616:56,226,496A/G—likely benign
rs146194824516:56,226,499A/G—likely benign
rs86931293916:56,226,500G/Cmissense variantpathogenic
rs143763931116:56,226,502A/G—likely benign
rs214327216216:56,226,503A/G—pathogenic
rs214327217216:56,226,505A/T—likely pathogenic
rs159678782116:56,226,507G/A—pathogenic
rs155549980016:56,226,510C/T—pathogenic
rs76322347216:56,226,512A/C—uncertain significance
rs214327224116:56,226,518A/G—uncertain significance
rs155549980116:56,226,520G/A—likely benign
rs214327226016:56,226,522A/G—pathogenic
rs156743207916:56,226,523G/A—likely benign
rs214327229516:56,226,525T/A—uncertain significance
rs14587257016:56,226,536C/G—likely benign
rs75160884616:56,226,537C/T—likely benign
rs76191284116:56,226,540T/G—likely benign
rs76796512716:56,226,541G/T—likely benign
rs56587152416:56,226,542G/T—likely benign
rs75636988416:56,226,544A/G—likely benign
rs20141372116:56,226,545T/C—benign
rs95993516:56,229,578A/Gupstream gene variant—
rs7646244916:56,247,158C/T—benign
rs55124272216:56,247,210C/T—likely benign
rs53520541416:56,247,285G/A—benign
rs930268116:56,289,571T/G—benign
rs7452391116:56,298,084G/Tregulatory region variant—
rs11707676416:56,304,886C/Tintron variant—
rs7819058516:56,309,795A/G—likely benign
rs135167701416:56,309,849C/T—likely benign
rs250674522216:56,309,851A/G—uncertain significance
rs116566007316:56,309,855A/G—likely benign
rs20020130516:56,309,867C/T—likely benign
rs94083324216:56,309,868G/A—uncertain significance
rs36811334516:56,309,876C/T—likely benign
rs55793256216:56,309,877G/A—uncertain significance
rs214352090816:56,309,882A/G—likely benign
rs145291027616:56,309,885G/A—likely benign
rs159683646516:56,309,910A/G—uncertain significance
rs126368317016:56,309,913A/C—conflicting classifications of pathogenicity
rs75694746316:56,309,933C/T—likely benign
rs76711557816:56,309,937C/T—uncertain significance
rs130130201916:56,309,938G/A—likely benign
rs250674544216:56,309,940G/T—uncertain significance
rs214352105316:56,309,942C/T—likely benign
rs155550423316:56,309,943A/G—uncertain significance
rs122167886816:56,309,944T/G—uncertain significance
rs20172873616:56,309,948C/T—likely benign
rs130938979316:56,309,955G/A—conflicting classifications of pathogenicity
rs127154071916:56,309,956G/A—conflicting classifications of pathogenicity
rs203705860716:56,309,958A/G—uncertain significance
rs74990953716:56,309,960C/T—likely benign
rs203705867916:56,309,961G/A—uncertain significance

Showing 100 of 406 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.