ACADM

acyl-CoA dehydrogenase medium chain

Summary

This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants660 total

rsidPosition (GRCh37)AllelesClassClinVar
rs12510781:76,189,488C/Gupstream gene variant—
rs12510771:76,189,745C/G—benign
rs617973391:76,189,946G/T—benign
rs1148027871:76,190,037C/G—benign
rs8860465181:76,190,070C/T—uncertain significance
rs1140054611:76,190,072G/A—likely benign
rs8860465191:76,190,098C/T—uncertain significance
rs12510761:76,190,111T/C—likely benign
rs8860465201:76,190,131G/T—uncertain significance
rs8860465211:76,190,169A/G—uncertain significance
rs178480681:76,190,216G/A—likely benign
rs8860465221:76,190,304C/T—uncertain significance
rs611249941:76,190,331C/G—likely benign
rs5679834461:76,190,381A/G—uncertain significance
rs9080195701:76,190,395G/C—uncertain significance
rs7534111411:76,190,423A/T—uncertain significance
rs599324541:76,190,439T/C—benign
rs7630245391:76,190,444T/C—uncertain significance
rs3677346651:76,190,456C/G—uncertain significance
rs10575167781:76,190,473A/Gmissense variantpathogenic
rs12801480411:76,190,474T/G—pathogenic
rs15531218871:76,190,475G/C—pathogenic
rs7521906881:76,190,478A/C—likely benign
rs7773898841:76,190,482G/A—uncertain significance
rs2016464991:76,190,483G/T—uncertain significance
rs7578454431:76,190,484G/C—likely benign
rs10240564461:76,190,487C/A—uncertain significance
rs3720883891:76,190,489G/A—uncertain significance
rs14559961781:76,190,491C/T—likely pathogenic
rs9065599031:76,190,493A/G—likely benign
rs21003327231:76,190,496C/A—pathogenic
rs16470213421:76,190,503G/C—pathogenic
rs7685962191:76,190,504T/C—pathogenic
rs7745315011:76,190,506A/G—likely pathogenic
rs25255346171:76,190,507G/C—uncertain significance
rs7605264921:76,190,510G/A—likely benign
rs7709617071:76,190,511G/A—likely benign
rs7594134791:76,190,512A/G—likely benign
rs3754924951:76,190,513G/A—likely benign
rs12149761791:76,190,516C/T—likely benign
rs7627040291:76,190,520G/A—likely benign
rs15708433471:76,190,522T/C—likely benign
rs1160346181:76,190,568T/C—benign
rs12510751:76,190,569C/G—benign
rs12510741:76,190,690C/A—benign
rs18904521:76,192,508G/T——
rs111614681:76,192,582C/Tregulatory region variant—
rs18904511:76,192,765C/G——
rs1427959301:76,194,013C/T—benign
rs2015908811:76,194,049C/T—likely benign
rs75244671:76,194,054C/G—benign
rs25255515141:76,194,066A/C—likely benign
rs25255515251:76,194,067A/T—likely benign
rs5499994771:76,194,069A/G—likely benign
rs16470886021:76,194,070A/G—likely benign
rs16470886341:76,194,073G/A—likely benign
rs7679628791:76,194,074T/G—uncertain significance
rs12312815601:76,194,078C/T—likely benign
rs7566545201:76,194,081T/A—uncertain significance
rs21003469221:76,194,082A/G—likely benign
rs7667278761:76,194,084A/G—likely pathogenic
rs13496380921:76,194,085G/C—likely pathogenic
rs25255516341:76,194,087T/C—uncertain significance
rs15574409401:76,194,088C/T—likely benign
rs5627221321:76,194,089C/T—likely benign
rs178480701:76,194,105G/A—conflicting classifications of pathogenicity
rs12847458911:76,194,109T/C—likely benign
rs14468939941:76,194,111A/G—uncertain significance
rs7629843181:76,194,112T/C—conflicting classifications of pathogenicity
rs13583312451:76,194,116A/C—likely benign
rs13256095961:76,194,120C/A—pathogenic
rs15708517021:76,194,122C/T—pathogenic
rs1417721631:76,194,126A/G—uncertain significance
rs21003471431:76,194,132A/C—uncertain significance
rs25255519971:76,194,136C/T—likely benign
rs7780350071:76,194,138A/G—uncertain significance
rs7457934091:76,194,140C/T—pathogenic
rs7699066251:76,194,141G/T—pathogenic
rs21003471771:76,194,142A/G—uncertain significance
rs10471397421:76,194,145A/G—likely benign
rs7684529111:76,194,146C/T—conflicting classifications of pathogenicity
rs5298942721:76,194,147G/A—pathogenic
rs21003472241:76,194,153C/G—uncertain significance
rs21003472271:76,194,154A/G—likely benign
rs25255521201:76,194,156G/T—uncertain significance
rs16470904851:76,194,159T/G—pathogenic
rs21003473031:76,194,163A/G—likely benign
rs21003473231:76,194,167A/C—uncertain significance
rs3981230711:76,194,173G/C—conflicting classifications of pathogenicity
rs1138875381:76,194,174G/T—pathogenic
rs2022185031:76,194,183C/A—likely pathogenic
rs13133163521:76,194,184G/A—likely benign
rs7540867741:76,194,190A/G—likely benign
rs7554054181:76,194,191T/A—likely benign
rs8759898681:76,194,287A/G—benign
rs11465721:76,194,306A/G—benign
rs617973401:76,196,912C/G——
rs75486951:76,198,033A/G—benign
rs757952141:76,198,246A/C—benign
rs740907241:76,198,309T/C—benign

Showing 100 of 660 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.

ACADM — acyl-CoA dehydrogenase medium chain