PCCA

propionyl-CoA carboxylase subunit alpha

Summary

The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

Known Variants1,016 total

rsidPosition (GRCh37)AllelesClassClinVar
rs36869510713:100,741,306T/G—likely benign
rs77803956113:100,741,315C/T—uncertain significance
rs37494159313:100,741,355G/A—conflicting classifications of pathogenicity
rs11343815013:100,741,361C/T—likely benign
rs88604992613:100,741,370C/T—uncertain significance
rs204602168213:100,741,371A/C—uncertain significance
rs97657119913:100,741,375A/G—uncertain significance
rs37209352013:100,741,376T/A—pathogenic
rs76071098713:100,741,378G/C—uncertain significance
rs95836559013:100,741,380G/A—likely benign
rs54720914113:100,741,383G/C—likely benign
rs75925702113:100,741,386C/G—uncertain significance
rs1153955413:100,741,389G/A—uncertain significance
rs143117639713:100,741,391T/C—uncertain significance
rs75242362913:100,741,392C/T—likely benign
rs122445766313:100,741,393G/C—uncertain significance
rs128304374813:100,741,394G/C—uncertain significance
rs11739700413:100,741,398A/G—likely benign
rs204602672513:100,741,401A/G—likely benign
rs125157235413:100,741,403C/A—uncertain significance
rs120617342113:100,741,404G/T—likely benign
rs215218947713:100,741,405C/T—likely benign
rs146218134913:100,741,406T/A—uncertain significance
rs92200220813:100,741,407G/T—likely benign
rs37551691713:100,741,410C/T—benign
rs20071480213:100,741,416C/T—conflicting classifications of pathogenicity
rs159399663613:100,741,417G/T—pathogenic
rs148072567313:100,741,419A/G—likely benign
rs254195164213:100,741,422G/C—likely benign
rs76891481913:100,741,424G/A—uncertain significance
rs77928646113:100,741,426G/C—uncertain significance
rs137390390513:100,741,428G/A—likely benign
rs130212545113:100,741,432T/C—uncertain significance
rs36974345213:100,741,435C/T—uncertain significance
rs136792892113:100,741,436C/T—uncertain significance
rs215218980013:100,741,437G/A—likely benign
rs140610200513:100,741,438C/T—uncertain significance
rs77339757013:100,741,439C/T—uncertain significance
rs76079894613:100,741,440G/A—likely benign
rs156643639213:100,741,442A/C—uncertain significance
rs159399709313:100,741,443G/A—likely benign
rs215218992613:100,741,446G/A—likely benign
rs121674149113:100,741,447C/T—likely benign
rs129578961013:100,741,449G/T—likely benign
rs254195246413:100,741,451T/C—uncertain significance
rs215218996713:100,741,453C/T—likely benign
rs215218997313:100,741,455G/A—likely benign
rs148373727213:100,741,461G/C—likely benign
rs77644925513:100,741,464G/C—likely benign
rs215219006313:100,741,465C/T—likely benign
rs254195306913:100,741,467G/A—likely benign
rs215219008913:100,741,468C/A—likely benign
rs126673814713:100,741,471A/T—uncertain significance
rs148671073413:100,741,472C/A—uncertain significance
rs118061727113:100,741,473C/T—likely benign
rs87925380413:100,741,480G/A—pathogenic
rs204603820813:100,741,487G/A—likely benign
rs125737904713:100,741,488C/T—likely benign
rs254195392713:100,741,490A/G—likely benign
rs204603890913:100,741,495G/A—likely benign
rs254195414313:100,741,499C/T—likely benign
rs36961031413:100,741,585C/A—likely benign
rs798431113:100,741,752G/A—benign
rs731776113:100,753,796C/T——
rs930058613:100,754,836C/T—benign
rs11735013713:100,754,927C/T—likely benign
rs218438213:100,755,044A/G—benign
rs120741170613:100,755,120C/T—likely benign
rs254216403813:100,755,125C/A—likely benign
rs74719778813:100,755,126T/C—likely benign
rs77094074013:100,755,127T/C—likely benign
rs77673592213:100,755,128T/G—likely benign
rs101118413213:100,755,135A/G—likely pathogenic
rs76981912113:100,755,136G/A—likely pathogenic
rs204739904613:100,755,145G/A—likely benign
rs204739957213:100,755,151T/C—uncertain significance
rs76391693013:100,755,157A/G—likely benign
rs204740032013:100,755,158C/T—pathogenic
rs204740051313:100,755,159A/G—uncertain significance
rs204740076013:100,755,160G/A—likely benign
rs90539174013:100,755,161T/C—uncertain significance
rs87925380913:100,755,165——pathogenic
rs77415800413:100,755,167A/G—uncertain significance
rs254216552913:100,755,172G/T—likely benign
rs14865192113:100,755,176C/T—likely benign
rs57067407313:100,755,177G/A—uncertain significance
rs254216577913:100,755,184T/A—likely benign
rs75555367413:100,755,186G/A—uncertain significance
rs254216592613:100,755,187T/C—likely benign
rs204740435013:100,755,190A/T—likely benign
rs254216639413:100,755,202T/C—likely benign
rs75319555013:100,755,203C/T—conflicting classifications of pathogenicity
rs77806587713:100,755,208T/A—uncertain significance
rs100393520213:100,755,211A/G—likely benign
rs140795796613:100,755,214A/G—uncertain significance
rs75754062513:100,755,215G/A—pathogenic
rs155534259313:100,755,216T/C—pathogenic
rs117906835213:100,755,217A/G—uncertain significance
rs36976765513:100,755,221A/G—likely benign
rs215225105313:100,755,223T/G—likely benign

Showing 100 of 1,016 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.