POLG

DNA polymerase gamma, catalytic subunit

Summary

Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants2,160 total

rsidPosition (GRCh37)AllelesClassClinVar
rs205525647115:89,859,548G/A—uncertain significance
rs205525786715:89,859,562T/C—uncertain significance
rs78137384515:89,859,940G/A—likely benign
rs77306259515:89,859,970C/T—likely benign
rs105752133615:89,859,978A/G—likely benign
rs99182357515:89,859,982C/G—uncertain significance
rs76463468915:89,859,985T/C—likely benign
rs132288247315:89,859,986G/A—uncertain significance
rs75940533415:89,859,987G/T—uncertain significance
rs53845036715:89,859,989C/G—uncertain significance
rs102423471215:89,859,990C/G—uncertain significance
rs119118379315:89,859,991A/C—likely benign
rs20078848215:89,859,992G/A—uncertain significance
rs205528030015:89,859,996G/A—uncertain significance
rs78149818015:89,859,997G/C—uncertain significance
rs14434688615:89,860,002G/T—conflicting classifications of pathogenicity
rs250915555115:89,860,003T/G—uncertain significance
rs250915574115:89,860,007T/C—uncertain significance
rs250915582315:89,860,009C/T—likely benign
rs94112037015:89,860,011A/C—uncertain significance
rs317957815:89,860,012G/A—likely benign
rs74935515115:89,860,014A/C—uncertain significance
rs148394889015:89,860,015G/A—likely benign
rs37145424115:89,860,016C/T—uncertain significance
rs159634722115:89,860,019T/C—uncertain significance
rs77551715315:89,860,022G/T—uncertain significance
rs250915680815:89,860,025A/T—uncertain significance
rs77907248715:89,860,031A/G—uncertain significance
rs14878664215:89,860,035T/C—conflicting classifications of pathogenicity
rs156718315015:89,860,040T/G—uncertain significance
rs250915779715:89,860,044T/C—uncertain significance
rs77650662615:89,860,046T/C—uncertain significance
rs75251396815:89,860,048C/T—likely benign
rs14630134915:89,860,050G/A—conflicting classifications of pathogenicity
rs77504893015:89,860,051C/T—likely benign
rs56906306615:89,860,053C/G—uncertain significance
rs137112192015:89,860,054T/G—uncertain significance
rs146989689415:89,860,056C/T—uncertain significance
rs250915882815:89,860,057A/C—likely benign
rs215205242715:89,860,065G/C—likely benign
rs250915972815:89,860,066A/G—likely benign
rs205528371515:89,860,069G/A—likely benign
rs250916022915:89,860,071G/A—likely benign
rs308737515:89,860,072C/T—likely benign
rs75395567715:89,860,076T/C—likely benign
rs144681592315:89,860,078G/A—likely benign
rs186002215:89,860,381G/C—benign
rs317623815:89,860,427C/T—likely benign
rs230745415:89,860,559T/C—uncertain significance
rs57263633915:89,860,589C/G—likely benign
rs54555963615:89,860,593T/G—likely benign
rs205530616615:89,860,594G/A—likely benign
rs148147768315:89,860,600T/G—likely benign
rs90705226315:89,860,601G/C—uncertain significance
rs75271234515:89,860,602C/G—conflicting classifications of pathogenicity
rs75858784215:89,860,604C/T—uncertain significance
rs133588034915:89,860,605A/G—pathogenic
rs132677903415:89,860,606C/T—pathogenic
rs78125664315:89,860,610G/A—conflicting classifications of pathogenicity
rs75615633615:89,860,611G/C—likely benign
rs133826583615:89,860,612G/A—uncertain significance
rs205530724315:89,860,617C/A—likely benign
rs76818118915:89,860,619C/T—uncertain significance
rs13956227415:89,860,620G/Tstop gainedpathogenic
rs74762702315:89,860,622A/G—uncertain significance
rs126440675215:89,860,624C/T—uncertain significance
rs205530796615:89,860,625T/C—uncertain significance
rs215205616915:89,860,631C/T—likely pathogenic
rs250918252115:89,860,634T/C—uncertain significance
rs215205618115:89,860,635C/A—uncertain significance
rs77273797915:89,860,636C/G—conflicting classifications of pathogenicity
rs205530821915:89,860,637C/T—uncertain significance
rs130089243915:89,860,638A/T—likely benign
rs124297302115:89,860,639G/C—uncertain significance
rs76110315915:89,860,640T/A—likely benign
rs205530852915:89,860,643G/T—uncertain significance
rs215205623915:89,860,645T/G—uncertain significance
rs215205624815:89,860,646T/A—uncertain significance
rs250918304315:89,860,649A/C—uncertain significance
rs230744315:89,860,653G/T—likely benign
rs97051657315:89,860,654G/A—uncertain significance
rs250918335915:89,860,660C/T—uncertain significance
rs142681117415:89,860,661A/G—conflicting classifications of pathogenicity
rs76534451315:89,860,664C/T—conflicting classifications of pathogenicity
rs75872036115:89,860,666A/C—uncertain significance
rs76423362315:89,860,667T/C—uncertain significance
rs155545224715:89,860,668G/A—conflicting classifications of pathogenicity
rs75169840015:89,860,670T/C—uncertain significance
rs36943892715:89,860,674T/C—likely benign
rs205530992215:89,860,676C/A—pathogenic
rs108530774115:89,860,677C/Amissense variantpathogenic
rs156718398815:89,860,678T/C—uncertain significance
rs53117485315:89,860,680C/T—likely benign
rs250918405015:89,860,683G/C—likely benign
rs14658495615:89,860,686G/A—conflicting classifications of pathogenicity
rs75484417515:89,860,688A/G—likely pathogenic
rs6264003715:89,860,689C/G—uncertain significance
rs19967877515:89,860,690C/T—uncertain significance
rs36954457415:89,860,691G/A—conflicting classifications of pathogenicity
rs105751913915:89,860,693T/A—uncertain significance

Showing 100 of 2,160 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.