POLG2

DNA polymerase gamma 2, accessory subunit

Summary

This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]

Known Variants378 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11560131817:62,473,851A/G—likely benign
rs250951278517:62,473,942A/G—uncertain significance
rs250951281417:62,473,953G/A—uncertain significance
rs37608752917:62,473,954C/A—uncertain significance
rs78213319217:62,473,963T/C—uncertain significance
rs78196340717:62,473,967C/T—likely benign
rs250951295517:62,473,997A/G—likely benign
rs203779176917:62,474,012C/T—uncertain significance
rs203779181717:62,474,014T/C—uncertain significance
rs127236850317:62,474,017T/C—uncertain significance
rs203779216417:62,474,033C/A—likely benign
rs128479925817:62,474,035G/T—uncertain significance
rs10489463217:62,474,046C/Tmissense variantpathogenic
rs250951311617:62,474,047C/G—uncertain significance
rs78253770517:62,474,049T/G—uncertain significance
rs203779299917:62,474,052T/G—uncertain significance
rs250951319517:62,474,054C/A—uncertain significance
rs78183080617:62,474,058G/C—uncertain significance
rs78249612517:62,474,059T/C—uncertain significance
rs139419285017:62,474,069A/G—likely benign
rs155566580317:62,474,074A/C—uncertain significance
rs20011829217:62,474,079G/A—uncertain significance
rs37211810317:62,474,081G/A—likely benign
rs203779419817:62,474,083A/G—uncertain significance
rs214412049217:62,474,101C/A—uncertain significance
rs78254867917:62,474,103T/C—uncertain significance
rs86322417017:62,474,105C/Gmissense variantuncertain significance
rs37600428117:62,474,115A/T—likely benign
rs78224535017:62,474,118T/C—likely benign
rs11371471817:62,475,494G/T——
rs18882854317:62,476,371A/G—likely benign
rs155566622817:62,476,397A/G—likely benign
rs78219394617:62,476,406T/C—uncertain significance
rs131810854717:62,476,408C/T—likely benign
rs78240133617:62,476,409G/A—uncertain significance
rs5629991517:62,476,416G/A—conflicting classifications of pathogenicity
rs78237741017:62,476,420T/A—uncertain significance
rs250951841217:62,476,423C/T—likely benign
rs116214767617:62,476,425A/G—likely benign
rs203783591217:62,476,428A/G—uncertain significance
rs6173378217:62,476,429A/G—benign
rs18158307117:62,476,430G/T—conflicting classifications of pathogenicity
rs78233584517:62,476,431A/C—uncertain significance
rs78208750717:62,476,433T/G—uncertain significance
rs37321463717:62,476,435C/T—uncertain significance
rs78217061217:62,476,436A/G—uncertain significance
rs250951850217:62,476,438A/G—likely benign
rs78208282217:62,476,443C/T—uncertain significance
rs250951856417:62,476,450A/G—likely benign
rs1785045517:62,476,451C/G—likely benign
rs78279248617:62,476,465A/G—likely benign
rs155566625517:62,476,468C/A—likely benign
rs78190318317:62,476,479G/T—uncertain significance
rs250951873817:62,476,481A/G—uncertain significance
rs122838727217:62,476,491A/G—uncertain significance
rs6175198217:62,476,495C/A—likely benign
rs78264496817:62,476,496C/T—uncertain significance
rs78223212217:62,476,499T/A—uncertain significance
rs155566627417:62,476,502C/A—uncertain significance
rs155566627617:62,476,507C/A—uncertain significance
rs722567217:62,476,638T/C—benign
rs989826117:62,478,840G/A—likely benign
rs250952494017:62,479,026T/C—likely benign
rs144773358917:62,479,032T/A—uncertain significance
rs214414186917:62,479,035C/T—uncertain significance
rs214414187717:62,479,036C/T—uncertain significance
rs138226873817:62,479,037T/A—uncertain significance
rs155566678817:62,479,038G/C—uncertain significance
rs78204436617:62,479,050A/G—likely benign
rs78201222217:62,479,055G/A—uncertain significance
rs78216230917:62,479,056G/T—uncertain significance
rs145028042617:62,479,058C/G—uncertain significance
rs78275760117:62,479,066T/C—likely benign
rs6175198317:62,479,069A/C—benign
rs155566680217:62,479,076G/C—uncertain significance
rs141841766817:62,479,083T/C—uncertain significance
rs14673159617:62,479,086T/C—uncertain significance
rs250952522017:62,479,097C/T—uncertain significance
rs214414225917:62,479,107G/A—uncertain significance
rs250952530517:62,479,125A/G—likely benign
rs203788774817:62,479,126T/C—uncertain significance
rs138420181917:62,479,127T/G—likely benign
rs203788790117:62,479,131T/C—likely benign
rs156808312417:62,479,133G/A—likely benign
rs1765030117:62,479,273A/C—benign
rs204280617:62,481,790C/T—likely benign
rs722307817:62,481,801A/G—benign
rs20166124517:62,481,838A/G—likely benign
rs250953180417:62,481,841G/C—uncertain significance
rs20193672017:62,481,850T/Cmissense variantlikely benign
rs214415631417:62,481,852T/A—uncertain significance
rs203793955417:62,481,854A/G—likely benign
rs131642562917:62,481,870G/T—uncertain significance
rs203793978717:62,481,875G/T—likely benign
rs203793983317:62,481,878G/A—likely benign
rs78222390917:62,481,881C/T—likely benign
rs78233325617:62,481,890C/T—likely benign
rs78202439417:62,481,893G/A—likely benign
rs55148571817:62,481,895A/G—uncertain significance
rs155566735017:62,481,897G/A—uncertain significance

Showing 100 of 378 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.