ACADVL

acyl-CoA dehydrogenase very long chain

Summary

The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Known Variants1,308 total

rsidPosition (GRCh37)AllelesClassClinVar
rs155552647217:7,120,493G/A—uncertain significance
rs73088003617:7,121,058A/G—uncertain significance
rs123791580017:7,121,073C/T—uncertain significance
rs155552666717:7,121,088C/T—uncertain significance
rs155552667117:7,121,095G/A—uncertain significance
rs7283970617:7,121,105C/A—benign
rs7980989117:7,122,956G/A—benign
rs7928105517:7,123,010C/T—likely benign
rs991531917:7,123,058A/G—likely benign
rs207109465717:7,123,164G/A—likely benign
rs88605337117:7,123,172C/T—uncertain significance
rs37259255417:7,123,268A/G—conflicting classifications of pathogenicity
rs78002126617:7,123,293G/T—conflicting classifications of pathogenicity
rs76823647417:7,123,306G/A—likely pathogenic
rs250822919617:7,123,307C/T—pathogenic
rs78087712517:7,123,311C/T—uncertain significance
rs133103681217:7,123,312G/A—likely benign
rs101968416117:7,123,314C/A—uncertain significance
rs74767216517:7,123,316C/G—uncertain significance
rs116500930717:7,123,320T/C—uncertain significance
rs142723270017:7,123,321G/A—uncertain significance
rs214295924017:7,123,323C/A—uncertain significance
rs90382471217:7,123,327G/C—likely benign
rs77059002717:7,123,329G/C—uncertain significance
rs123112411917:7,123,330C/T—likely benign
rs126511606617:7,123,331T/C—likely benign
rs214295936317:7,123,333G/A—likely benign
rs97542792717:7,123,336G/A—likely benign
rs76929034917:7,123,337C/T—uncertain significance
rs119826514317:7,123,338G/A—uncertain significance
rs6375067017:7,123,340C/T—pathogenic
rs52944359417:7,123,341A/T—uncertain significance
rs148149099317:7,123,342G/A—likely benign
rs250823076617:7,123,343C/G—uncertain significance
rs223017917:7,123,352C/T—benign
rs37673353317:7,123,354C/T—conflicting classifications of pathogenicity
rs75991860117:7,123,357G/A—likely benign
rs14403615217:7,123,359G/T—uncertain significance
rs76091029717:7,123,360C/G—uncertain significance
rs250823143317:7,123,361G/T—pathogenic
rs76428508817:7,123,362G/A—uncertain significance
rs75392285517:7,123,365G/A—likely pathogenic
rs207111152917:7,123,366G/A—pathogenic
rs214295978417:7,123,367T/C—likely pathogenic
rs129914018017:7,123,370G/A—uncertain significance
rs155552749517:7,123,371T/C—likely pathogenic
rs36951228117:7,123,374G/A—conflicting classifications of pathogenicity
rs75478904817:7,123,376G/A—likely benign
rs129900123317:7,123,378C/T—likely benign
rs37565151217:7,123,381G/A—likely benign
rs78077641917:7,123,383G/A—uncertain significance
rs36916321117:7,123,385G/A—conflicting classifications of pathogenicity
rs77490532617:7,123,406G/A—benign
rs37298229517:7,123,410C/T—likely benign
rs148178223717:7,123,423A/G—uncertain significance
rs159751605917:7,123,424A/T—likely benign
rs53476694117:7,123,425C/T—likely benign
rs214296063817:7,123,431C/T—likely benign
rs214296065217:7,123,433C/T—likely benign
rs129646515217:7,123,434C/T—likely benign
rs250823468617:7,123,436C/T—likely benign
rs214296068117:7,123,437A/G—likely benign
rs155552751317:7,123,439A/C—likely pathogenic
rs195079654417:7,123,442T/C—uncertain significance
rs72750378817:7,123,443C/Astop gainedpathogenic
rs3415337017:7,123,446G/T—uncertain significance
rs250823518517:7,123,447G/A—likely benign
rs214296083817:7,123,453G/T—likely benign
rs128511712917:7,123,456G/C—likely benign
rs159751626717:7,123,457C/T—uncertain significance
rs250823550617:7,123,459C/G—likely benign
rs250823557317:7,123,462G/A—likely benign
rs124797995817:7,123,464G/A—uncertain significance
rs148794629417:7,123,469C/T—uncertain significance
rs75480648917:7,123,473G/A—uncertain significance
rs124337105117:7,123,474G/A—likely benign
rs118092966917:7,123,477C/T—likely benign
rs78106120517:7,123,478G/A—uncertain significance
rs214296112017:7,123,480C/T—likely benign
rs116591568017:7,123,485C/T—uncertain significance
rs98730649017:7,123,486C/T—likely benign
rs53699226817:7,123,487C/T—uncertain significance
rs250823699317:7,123,488G/A—uncertain significance
rs75580379817:7,123,489G/A—likely benign
rs77738096417:7,123,492G/C—likely benign
rs37088358417:7,123,495C/T—likely benign
rs250823730817:7,123,497A/G—uncertain significance
rs36770564017:7,123,499G/A—uncertain significance
rs77821762817:7,123,501C/T—likely benign
rs131551133517:7,123,504G/T—likely benign
rs147193164017:7,123,505G/A—uncertain significance
rs223017817:7,123,506G/A—benign
rs72750378917:7,123,507T/A—conflicting classifications of pathogenicity
rs57381096017:7,123,508G/A—uncertain significance
rs123789222317:7,123,510C/T—likely benign
rs207112406217:7,123,512C/T—uncertain significance
rs77595680017:7,123,516G/A—uncertain significance
rs74735168717:7,123,517G/A—likely pathogenic
rs105751681717:7,123,518T/C—pathogenic
rs207112464217:7,123,521G/A—uncertain significance

Showing 100 of 1,308 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.