ABHD12

abhydrolase domain containing 12, lysophospholipase

Summary

This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]

Known Variants448 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75218328120:25,275,604T/C—likely benign
rs250042920:25,275,617G/A—benign
rs7359837320:25,275,621T/C—benign
rs75557794720:25,275,628A/G—uncertain significance
rs127645061220:25,275,674A/G—likely benign
rs7509741020:25,275,795C/G—benign
rs225871920:25,275,843C/T—benign
rs225872020:25,275,870G/A—benign
rs225742020:25,275,890C/A—benign
rs52762610920:25,280,832G/A—uncertain significance
rs4130480220:25,280,940C/T—benign
rs4130991720:25,281,027T/C—likely benign
rs88605656220:25,281,104G/A—uncertain significance
rs88605656320:25,281,128C/T—uncertain significance
rs92705884220:25,281,150C/G—uncertain significance
rs53414028720:25,281,160C/A—benign
rs1110020:25,281,184G/C—benign
rs88990953220:25,281,304G/A—uncertain significance
rs101319473520:25,281,332C/T—uncertain significance
rs104607320:25,281,333G/A—benign
rs242470820:25,281,398C/T—benign
rs20045075820:25,281,436C/G—uncertain significance
rs37733944320:25,281,459T/C—conflicting classifications of pathogenicity
rs56604649320:25,281,468C/A—likely benign
rs77148994220:25,281,483A/G—uncertain significance
rs208862263220:25,281,486G/A—uncertain significance
rs1153907620:25,281,488T/C—uncertain significance
rs74599095620:25,281,489G/Adownstream gene variantpathogenic
rs76317828920:25,281,493C/T—likely benign
rs122632741420:25,281,495C/T—uncertain significance
rs18423286020:25,281,502C/T—benign
rs77991838120:25,281,503G/A—uncertain significance
rs123224311320:25,281,519C/T—uncertain significance
rs130666263520:25,281,526C/A—likely benign
rs7334500320:25,281,618C/T—likely benign
rs225992620:25,281,733T/C—benign
rs225992820:25,281,834G/C—benign
rs250043120:25,282,528T/C—benign
rs223618020:25,282,608T/C—benign
rs225996120:25,282,626T/G—benign
rs11139256120:25,282,641G/A—likely benign
rs435819420:25,282,753C/T—likely benign
rs77441417420:25,282,852C/G—uncertain significance
rs214591680120:25,282,855C/T—uncertain significance
rs77195151220:25,282,856T/G—uncertain significance
rs13913525420:25,282,864C/T—conflicting classifications of pathogenicity
rs77626910620:25,282,867G/A—uncertain significance
rs99157375220:25,282,868G/A—uncertain significance
rs214591686220:25,282,869C/G—likely benign
rs14270919720:25,282,871G/A—likely benign
rs14706065820:25,282,874C/A—uncertain significance
rs251574628820:25,282,878G/A—likely benign
rs125015262020:25,282,881C/G—uncertain significance
rs75225445620:25,282,883T/A—likely pathogenic
rs75764358620:25,282,890G/T—pathogenic
rs58777760220:25,282,896G/Cmissense variantpathogenic
rs208864991720:25,282,898G/A—uncertain significance
rs14602804020:25,282,899C/T—conflicting classifications of pathogenicity
rs74943285520:25,282,902G/A—likely benign
rs77922500220:25,282,908A/G—likely benign
rs74738230020:25,282,913C/A—uncertain significance
rs122651751420:25,282,920A/G—likely benign
rs156870945620:25,282,921A/C—uncertain significance
rs120471769720:25,282,926C/T—likely benign
rs14951493320:25,282,929A/G—likely benign
rs89879804120:25,282,937C/T—uncertain significance
rs147212865320:25,282,941G/A—likely benign
rs1096620:25,282,944A/G—benign
rs37695392920:25,282,948C/T—uncertain significance
rs20053649720:25,282,949G/A—pathogenic
rs77640440020:25,282,957C/T—uncertain significance
rs26760662420:25,282,958G/Astop gainedpathogenic
rs75912122320:25,282,965T/C—likely benign
rs74674820:25,282,967C/T—benign
rs37141823920:25,282,968G/A—conflicting classifications of pathogenicity
rs77389166420:25,282,969G/A—uncertain significance
rs76373394120:25,282,970C/T—uncertain significance
rs18888893920:25,282,971G/A—conflicting classifications of pathogenicity
rs75425827920:25,282,989A/G—conflicting classifications of pathogenicity
rs139174443320:25,282,992G/A—likely benign
rs144475056120:25,282,996G/T—likely benign
rs11679288120:25,283,157A/T—likely benign
rs13994724120:25,283,248A/G—likely benign
rs14569216020:25,283,975C/G—likely benign
rs14854337120:25,283,990C/G—benign
rs11330739120:25,283,998C/T—likely benign
rs19204989620:25,284,003G/A—likely benign
rs18399336920:25,284,101C/T—likely benign
rs4554563220:25,284,124C/A—benign
rs208867805520:25,284,168G/A—likely benign
rs37741811320:25,284,176C/G—likely benign
rs56668155920:25,284,178G/A—likely benign
rs141891567020:25,284,185C/A—likely pathogenic
rs77289471720:25,284,193C/T—uncertain significance
rs14130708020:25,284,197G/A—uncertain significance
rs86858668120:25,284,200G/A—pathogenic
rs214592068620:25,284,201G/T—uncertain significance
rs208867909120:25,284,209C/T—uncertain significance
rs76348982920:25,284,213C/T—likely benign
rs148422683720:25,284,214G/A—uncertain significance

Showing 100 of 448 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.