ACSF3

acyl-CoA synthetase family member 3

Summary

This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013]

Known Variants741 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1016333416:89,160,116C/T—likely benign
rs53658795216:89,160,138G/A—likely benign
rs7668859416:89,160,158G/C—benign
rs1016323216:89,160,163G/A—benign
rs1016337316:89,160,215C/A—benign
rs56209270216:89,160,283C/G—benign
rs14522856716:89,160,329C/G—benign
rs53351815116:89,160,418G/C—likely benign
rs1016337916:89,160,424C/G—likely benign
rs993807516:89,160,452A/G—benign
rs55219605616:89,160,461G/A—likely benign
rs14228788916:89,160,488T/A—likely benign
rs3609928916:89,164,974A/C—benign
rs18138623116:89,164,985A/G—benign
rs14457005316:89,164,994G/C—likely benign
rs57792540716:89,165,005C/T—likely benign
rs146689603616:89,165,156C/T—likely benign
rs54841795316:89,165,162C/A—likely benign
rs14844404416:89,165,163G/C—likely benign
rs18962589016:89,165,169T/C—uncertain significance
rs57597881416:89,165,170G/C—likely benign
rs1244901916:89,166,807A/G—benign
rs1244561416:89,166,832A/G—benign
rs719589216:89,166,941C/T—benign
rs7281743416:89,166,988G/A—benign
rs14581990216:89,167,049C/A—benign
rs77010656516:89,167,059C/A—likely benign
rs76358331316:89,167,064C/G—likely benign
rs5755897216:89,167,066C/G—benign
rs11546915616:89,167,075C/G—likely benign
rs78145494816:89,167,080T/G—uncertain significance
rs121009720116:89,167,082T/A—uncertain significance
rs37038260116:89,167,090A/Gmissense variantpathogenic
rs718820016:89,167,094T/C—benign
rs125508911516:89,167,100A/G—uncertain significance
rs121056402716:89,167,101T/C—likely benign
rs77631440016:89,167,105G/C—uncertain significance
rs37507117616:89,167,107G/A—likely benign
rs254351905816:89,167,113C/G—likely benign
rs254351906616:89,167,116C/T—likely benign
rs20218297816:89,167,117C/Tmissense variantuncertain significance
rs75155122616:89,167,118G/A—uncertain significance
rs90108123516:89,167,120C/T—uncertain significance
rs78116335916:89,167,121G/T—uncertain significance
rs138695416216:89,167,122C/T—likely benign
rs127808956116:89,167,125G/T—likely benign
rs75630061916:89,167,131C/T—likely benign
rs37537497116:89,167,132G/A—conflicting classifications of pathogenicity
rs74966173816:89,167,133C/A—uncertain significance
rs77148105716:89,167,134C/G—likely benign
rs1154701916:89,167,138G/C—uncertain significance
rs720112216:89,167,140C/G—likely benign
rs215140504916:89,167,143C/T—likely benign
rs77290766316:89,167,147C/T—uncertain significance
rs155556047616:89,167,149G/T—likely benign
rs197519046416:89,167,151T/C—likely benign
rs57235789516:89,167,154C/T—uncertain significance
rs75146144516:89,167,155G/A—likely benign
rs75272047416:89,167,161G/A—likely benign
rs93117616216:89,167,164A/G—likely benign
rs197519356016:89,167,168A/C—likely benign
rs75627973016:89,167,169G/A—uncertain significance
rs76439336416:89,167,172G/A—uncertain significance
rs254351957416:89,167,173A/G—likely benign
rs75416118216:89,167,175G/C—uncertain significance
rs197519526216:89,167,180C/T—uncertain significance
rs254351963016:89,167,181T/C—uncertain significance
rs77945025016:89,167,194C/T—likely benign
rs74633462416:89,167,197A/G—likely benign
rs54966447316:89,167,199T/A—uncertain significance
rs14471152616:89,167,205G/A—uncertain significance
rs215140538216:89,167,206C/T—likely benign
rs74759875616:89,167,208C/A—likely pathogenic
rs3497268816:89,167,209G/A—likely benign
rs54588651416:89,167,211A/T—uncertain significance
rs90188330216:89,167,212C/G—uncertain significance
rs14791582816:89,167,218C/T—likely benign
rs75944869616:89,167,219G/A—uncertain significance
rs144458042516:89,167,221C/T—likely benign
rs76734875816:89,167,223C/T—uncertain significance
rs77555180616:89,167,224G/A—likely benign
rs159788720116:89,167,227G/A—likely benign
rs215140554016:89,167,230C/T—likely benign
rs14151866216:89,167,234C/T—uncertain significance
rs215140557516:89,167,236T/A—likely benign
rs118772059416:89,167,238C/T—uncertain significance
rs156768352016:89,167,240C/T—likely benign
rs74656401116:89,167,245C/T—likely benign
rs76563324916:89,167,248T/G—uncertain significance
rs254352021116:89,167,251G/A—likely benign
rs14704460216:89,167,260C/T—likely benign
rs197521319416:89,167,266G/A—likely benign
rs78040253516:89,167,268T/G—uncertain significance
rs20212147416:89,167,272C/G—uncertain significance
rs254352037216:89,167,273C/T—pathogenic
rs56226024316:89,167,278C/T—likely benign
rs20053679716:89,167,279G/A—uncertain significance
rs77057225216:89,167,281C/T—likely benign
rs74563304616:89,167,283G/A—conflicting classifications of pathogenicity
rs197521683216:89,167,287C/G—uncertain significance

Showing 100 of 741 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.