MLYCD

malonyl-CoA decarboxylase

Summary

The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded protein acts to increase the rate of fatty acid oxidation. It is found in mitochondria, peroxisomes, and the cytoplasm. Mutations in this gene result in malonyl-CoA decarboyxlase deficiency. [provided by RefSeq, Jul 2008]

Known Variants532 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14558525816:83,932,401A/C—likely benign
rs88008716:83,932,518A/G—benign
rs992985616:83,932,599C/G—likely benign
rs77052815816:83,932,714G/T—likely benign
rs55720429816:83,932,717G/C—benign
rs91517875016:83,932,720G/C—likely benign
rs86727113616:83,932,727C/A—likely benign
rs88605235516:83,932,739T/C—uncertain significance
rs993010316:83,932,743G/A—likely benign
rs126436849916:83,932,744G/C—likely benign
rs117955542416:83,932,750A/T—pathogenic
rs132449152616:83,932,751T/C—pathogenic
rs146833407816:83,932,756G/A—uncertain significance
rs12190808116:83,932,757G/Tmissense variantuncertain significance
rs141713937716:83,932,758C/T—likely benign
rs102785408516:83,932,761C/T—likely benign
rs74560465316:83,932,762G/A—conflicting classifications of pathogenicity
rs250737025916:83,932,763G/C—uncertain significance
rs143605829516:83,932,767A/G—likely benign
rs138620457416:83,932,770C/A—likely benign
rs250737031316:83,932,773G/A—likely benign
rs102356259316:83,932,776G/A—likely benign
rs133774623916:83,932,779C/G—likely benign
rs13810783016:83,932,780G/A—benign
rs77471744816:83,932,781G/A—uncertain significance
rs123662684916:83,932,785T/G—likely benign
rs95635261416:83,932,790T/G—uncertain significance
rs250737041316:83,932,791C/T—likely benign
rs215105309316:83,932,803G/A—likely benign
rs129271833016:83,932,807C/T—uncertain significance
rs91512448716:83,932,813C/T—uncertain significance
rs145672217116:83,932,815G/A—likely benign
rs143599346616:83,932,818C/G—likely benign
rs125266449416:83,932,821G/T—likely benign
rs146074312416:83,932,822C/A—uncertain significance
rs86657558516:83,932,825C/T—uncertain significance
rs250737057016:83,932,833G/T—likely benign
rs250737057416:83,932,834A/C—uncertain significance
rs125326504516:83,932,836C/T—likely benign
rs250737059616:83,932,842G/A—likely benign
rs250737060116:83,932,845G/A—likely benign
rs250737061216:83,932,851C/A—likely benign
rs137697939016:83,932,853C/T—uncertain significance
rs159728586316:83,932,857G/A—likely benign
rs2893790816:83,932,868T/Cmissense variantpathogenic
rs91039736116:83,932,872C/A—uncertain significance
rs146492514516:83,932,873G/T—pathogenic
rs76216659816:83,932,878G/A—likely benign
rs190668666716:83,932,879C/T—likely benign
rs250737068916:83,932,881G/A—likely benign
rs136544302416:83,932,883G/T—uncertain significance
rs76796907416:83,932,884C/T—conflicting classifications of pathogenicity
rs190668706416:83,932,885C/G—uncertain significance
rs89794650616:83,932,886G/A—uncertain significance
rs129935580616:83,932,890G/C—likely benign
rs120461289116:83,932,903C/G—uncertain significance
rs119845098816:83,932,908C/T—likely benign
rs134866628416:83,932,909T/A—uncertain significance
rs127339580216:83,932,910A/G—uncertain significance
rs190668854816:83,932,911C/A—pathogenic
rs190668884316:83,932,913A/T—uncertain significance
rs120753963616:83,932,914G/A—likely benign
rs126596914816:83,932,915C/T—likely benign
rs142860435116:83,932,923G/A—likely benign
rs250737077416:83,932,924A/T—pathogenic
rs190668929416:83,932,926G/C—uncertain significance
rs88605235616:83,932,927A/G—uncertain significance
rs76072120416:83,932,929A/T—likely benign
rs75400103016:83,932,936C/T—uncertain significance
rs215105317016:83,932,939G/A—uncertain significance
rs250737080816:83,932,941C/T—likely benign
rs75517215516:83,932,942G/T—pathogenic
rs75829178916:83,932,946G/A—uncertain significance
rs250737082216:83,932,948C/T—pathogenic
rs74698785516:83,932,951T/G—uncertain significance
rs20057994116:83,932,955C/T—likely benign
rs133649166516:83,932,957G/A—uncertain significance
rs121884682416:83,932,959C/T—likely benign
rs126451317716:83,932,960T/C—uncertain significance
rs78081568816:83,932,962C/G—uncertain significance
rs190669194716:83,932,968C/G—uncertain significance
rs250737088116:83,932,971C/T—likely benign
rs74537994016:83,932,973A/T—uncertain significance
rs52807423916:83,932,974C/G—pathogenic
rs123822351416:83,932,975G/T—uncertain significance
rs190669248816:83,932,980G/A—likely benign
rs54150339516:83,932,981C/T—benign
rs74845886816:83,932,986C/G—likely benign
rs135917614816:83,932,990A/G—uncertain significance
rs250737093116:83,932,995C/G—likely benign
rs190669388616:83,933,002G/A—uncertain significance
rs250737100816:83,933,007A/G—likely benign
rs102310989516:83,933,008C/T—likely benign
rs128334417416:83,933,010G/A—likely benign
rs76131008716:83,933,013G/A—likely benign
rs56177524516:83,933,016C/T—benign
rs250737106016:83,933,023G/T—uncertain significance
rs125571132316:83,933,025G/T—likely benign
rs90735207716:83,933,026C/T—uncertain significance
rs55072682016:83,933,031C/T—likely benign

Showing 100 of 532 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.