CPT1C

carnitine palmitoyltransferase 1C

Summary

This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

Known Variants291 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75193397719:50,195,511T/G—likely pathogenic
rs75571005319:50,195,530C/T—likely benign
rs116268932319:50,195,535G/A—uncertain significance
rs136103351619:50,195,542A/T—likely benign
rs75727783819:50,195,548G/A—likely benign
rs140035088919:50,195,556C/T—uncertain significance
rs103356337619:50,195,560C/A—uncertain significance
rs131784927219:50,195,564G/A—uncertain significance
rs20118594319:50,195,565C/T—uncertain significance
rs11377038019:50,195,579A/G—uncertain significance
rs74930780219:50,195,616T/G—uncertain significance
rs78620476719:50,195,618C/Tmissense variantpathogenic
rs75998021119:50,195,619G/A—uncertain significance
rs77480895119:50,195,620C/T—likely benign
rs140753915219:50,195,631G/C—uncertain significance
rs14096144119:50,195,648T/C—uncertain significance
rs13831332919:50,195,660G/A—benign
rs75832276319:50,195,669C/T—likely benign
rs1298006319:50,196,992A/C——
rs76299099719:50,200,587A/T—uncertain significance
rs14927987019:50,200,597C/T—likely benign
rs37423657619:50,200,598G/A—uncertain significance
rs135116607119:50,200,621C/T—likely benign
rs20111946619:50,200,637T/G—uncertain significance
rs15121998919:50,200,641G/A—uncertain significance
rs78056651419:50,200,644C/T—uncertain significance
rs20179278619:50,200,664C/T—uncertain significance
rs20200634919:50,200,694G/A—uncertain significance
rs120209140419:50,200,715C/A—uncertain significance
rs75148410319:50,200,730C/A—likely benign
rs76733829719:50,200,731C/T—likely benign
rs77046092619:50,203,926T/C—likely benign
rs52724194719:50,203,936C/T—likely benign
rs208296266619:50,203,938C/G—uncertain significance
rs14041164419:50,203,947A/C—likely benign
rs15029155019:50,203,950A/C—likely benign
rs76647967419:50,203,953C/T—likely benign
rs78174689819:50,203,964G/A—uncertain significance
rs53157507819:50,203,969G/T—uncertain significance
rs251407211619:50,203,971C/T—likely benign
rs14582162619:50,203,980C/T—likely benign
rs77537331119:50,203,992C/T—likely benign
rs36999279019:50,204,009C/T—uncertain significance
rs134700683619:50,204,016C/T—likely benign
rs251407294619:50,204,022A/G—likely benign
rs160007078519:50,204,031G/A—likely benign
rs75323316019:50,204,047C/G—likely benign
rs208297164519:50,204,050T/C—uncertain significance
rs75695494719:50,204,052C/T—likely benign
rs76851747719:50,204,076C/A—likely benign
rs54998435119:50,204,079C/T—likely benign
rs37236684119:50,204,097C/A—likely benign
rs77298094419:50,204,108G/A—uncertain significance
rs37202693319:50,204,116T/C—likely benign
rs7358842519:50,204,126A/G—benign
rs77236232519:50,204,563C/T—likely benign
rs208303770019:50,204,575C/T—uncertain significance
rs101822751419:50,204,580G/C—uncertain significance
rs77573276719:50,204,583C/T—uncertain significance
rs36982555719:50,204,609G/A—uncertain significance
rs134559110619:50,204,626G/A—uncertain significance
rs74802195619:50,204,645C/T—likely benign
rs74904224119:50,204,652T/C—uncertain significance
rs76933996419:50,204,654T/C—likely benign
rs77245303219:50,204,659A/G—uncertain significance
rs251408523219:50,204,660G/A—likely benign
rs76860234219:50,204,667G/T—uncertain significance
rs116582333919:50,204,745C/A—likely benign
rs76417453919:50,204,748C/T—likely benign
rs144736831619:50,204,756C/A—pathogenic
rs77885232019:50,204,765G/A—likely benign
rs74979179619:50,204,787G/A—uncertain significance
rs75990422119:50,204,796G/A—conflicting classifications of pathogenicity
rs76368975819:50,204,805G/A—uncertain significance
rs130319242419:50,204,807G/A—likely benign
rs251408818419:50,204,815C/T—uncertain significance
rs76185120519:50,204,818A/G—uncertain significance
rs1297324819:50,204,843A/G—benign
rs251408876719:50,204,850C/T—pathogenic
rs147757681119:50,204,862C/A—likely benign
rs77145740919:50,204,883T/G—uncertain significance
rs37589666119:50,204,887A/C—uncertain significance
rs77506767619:50,204,898C/G—likely benign
rs77629967019:50,204,902C/T—likely benign
rs37562388519:50,204,909C/T—likely benign
rs115650143019:50,207,953C/A—likely benign
rs76933762319:50,207,958C/G—likely benign
rs56557497519:50,207,959G/A—likely benign
rs251414727019:50,207,965A/G—likely pathogenic
rs160010816419:50,207,982G/A—uncertain significance
rs14420532119:50,207,994T/C—likely benign
rs76434750019:50,208,000C/T—uncertain significance
rs76535958119:50,208,013C/T—uncertain significance
rs75040849419:50,208,014G/A—likely benign
rs251414818819:50,208,021G/A—uncertain significance
rs251414866219:50,208,055G/A—likely benign
rs212339716719:50,208,064G/A—likely benign
rs77328804919:50,208,278C/T—likely benign
rs251415341819:50,208,285A/C—likely benign
rs19954428919:50,208,287G/A—likely benign

Showing 100 of 291 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.