CPT1A

carnitine palmitoyltransferase 1A

Summary

The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants834 total

rsidPosition (GRCh37)AllelesClassClinVar
rs301871211:68,522,053A/G—benign
rs7502291511:68,522,216C/T—likely benign
rs117083703311:68,525,112T/C—likely benign
rs215399450211:68,525,121G/A—likely benign
rs74700336911:68,525,125T/C—uncertain significance
rs76296119711:68,525,128G/C—uncertain significance
rs11183664011:68,525,136A/C—likely benign
rs194671719111:68,525,141A/G—uncertain significance
rs36804985511:68,525,142C/T—likely benign
rs194671752011:68,525,150T/C—uncertain significance
rs76130638911:68,525,151G/A—likely benign
rs215399451011:68,525,154G/A—likely benign
rs215399451111:68,525,163T/G—likely benign
rs14478182711:68,525,174G/T—uncertain significance
rs75244212811:68,525,175G/A—likely benign
rs77768994711:68,525,188C/A—uncertain significance
rs74676687011:68,525,190A/G—likely benign
rs90034985211:68,525,191T/A—uncertain significance
rs215399451411:68,525,196A/C—uncertain significance
rs249549647811:68,525,198C/A—uncertain significance
rs155522600411:68,525,199C/A—uncertain significance
rs77091259211:68,525,205T/C—likely benign
rs249549652011:68,525,208A/G—likely benign
rs78104080811:68,525,212A/C—likely benign
rs249549656511:68,525,214A/G—likely benign
rs11155894011:68,526,859T/C—likely benign
rs144813286611:68,527,017G/T—likely benign
rs249550269511:68,527,021T/C—likely benign
rs249550270611:68,527,022T/G—likely benign
rs37354774111:68,527,023C/T—likely benign
rs194676106611:68,527,028C/T—likely benign
rs249550273511:68,527,029A/G—likely benign
rs75530844811:68,527,033A/G—conflicting classifications of pathogenicity
rs20220894111:68,527,037C/T—uncertain significance
rs89148468811:68,527,046G/T—uncertain significance
rs94704986311:68,527,049A/G—likely benign
rs215399470911:68,527,067G/A—likely benign
rs15127175411:68,527,074T/C—conflicting classifications of pathogenicity
rs122361246011:68,527,075T/C—uncertain significance
rs133840334311:68,527,079G/T—likely benign
rs131576909711:68,527,082G/A—likely benign
rs77902655911:68,527,088T/C—likely benign
rs20050137911:68,527,094A/G—likely benign
rs77326966211:68,527,099T/C—likely benign
rs215399471511:68,527,100G/A—likely benign
rs76112029611:68,527,103C/T—likely benign
rs215399471811:68,527,106C/T—likely benign
rs76018442311:68,527,115G/C—likely benign
rs39751554411:68,527,116C/Tmissense variant—
rs14186851511:68,527,118G/A—likely benign
rs76230038311:68,527,123C/T—uncertain significance
rs194676426611:68,527,124A/G—likely benign
rs130413709911:68,527,133G/A—likely benign
rs93109915911:68,527,135G/A—likely benign
rs139509123511:68,527,141G/C—likely benign
rs14971363111:68,527,216C/T—likely benign
rs301959811:68,527,600G/A—benign
rs249550582211:68,527,674C/T—likely benign
rs37034976211:68,527,681C/T—likely benign
rs119287153811:68,527,682G/A—likely benign
rs75376456411:68,527,684C/T—likely benign
rs14756374011:68,527,685G/A—likely benign
rs77777954011:68,527,687A/G—uncertain significance
rs249550589911:68,527,691A/G—likely pathogenic
rs15079210911:68,527,693C/T—conflicting classifications of pathogenicity
rs194677801611:68,527,697C/A—uncertain significance
rs194677836911:68,527,705C/T—likely benign
rs8035678011:68,527,706C/Tmissense variantpathogenic
rs249550600511:68,527,707C/G—likely pathogenic
rs2893637411:68,527,709C/Tmissense variantpathogenic
rs76919468111:68,527,710C/T—uncertain significance
rs77374823711:68,527,711G/T—uncertain significance
rs159431526311:68,527,713T/C—uncertain significance
rs77174553411:68,527,719C/T—uncertain significance
rs14945477111:68,527,720G/A—likely benign
rs14398017811:68,527,727G/A—uncertain significance
rs122354218411:68,527,728G/T—uncertain significance
rs126360987111:68,527,732A/G—likely benign
rs18817354111:68,527,735C/T—benign
rs194677959311:68,527,736T/C—uncertain significance
rs215399478911:68,527,745A/G—uncertain significance
rs159431531411:68,527,747C/G—likely benign
rs126471314711:68,527,751T/C—uncertain significance
rs215399479311:68,527,753C/T—likely benign
rs119251420111:68,527,759C/T—likely benign
rs76516120611:68,527,764G/Astop gainedpathogenic
rs75169232311:68,527,768G/C—likely benign
rs249550636311:68,527,773G/A—pathogenic
rs126947266911:68,527,774G/C—likely pathogenic
rs75736972911:68,527,786T/C—likely benign
rs249550647411:68,527,788T/A—likely pathogenic
rs142807822111:68,527,798A/G—likely benign
rs215399480111:68,527,804A/T—likely benign
rs194678092911:68,527,807C/G—likely pathogenic
rs75072241211:68,527,809A/G—uncertain significance
rs249550658711:68,527,813A/G—likely benign
rs139827809111:68,527,814G/A—likely benign
rs215399480311:68,527,816G/A—likely benign
rs78034094811:68,527,820C/A—likely benign
rs74961046711:68,527,822G/A—likely benign

Showing 100 of 834 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.