MGME1

mitochondrial genome maintenance exonuclease 1

Summary

The protein encoded by this gene is a nuclear-encoded mitochondrial protein necessary for the maintenance of mitochondrial genome synthesis. The encoded protein is a RecB-type exonuclease and primarily cleaves single-stranded DNA. Defects in this gene have been associated with mitochondrial DNA depletion syndrome-11. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

Known Variants123 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7390113820:17,949,746C/T—likely benign
rs7452969920:17,950,322C/T—likely benign
rs14200143020:17,950,337G/T—likely benign
rs77860458520:17,950,503A/G—uncertain significance
rs77160940220:17,950,509A/G—uncertain significance
rs251521621120:17,950,511G/A—uncertain significance
rs74688592720:17,950,514G/C—uncertain significance
rs77085393120:17,950,525C/T—uncertain significance
rs1155176820:17,950,545A/T—benign
rs251521709920:17,950,546G/A—uncertain significance
rs76185442820:17,950,551A/G—uncertain significance
rs56566138820:17,950,554T/C—uncertain significance
rs76112602920:17,950,567C/A—pathogenic
rs55653991020:17,950,573C/T—uncertain significance
rs76675230520:17,950,581G/A—uncertain significance
rs75420324420:17,950,583T/G—likely benign
rs14381128220:17,950,588C/G—likely benign
rs251521854020:17,950,601C/T—likely benign
rs77735231620:17,950,605T/A—uncertain significance
rs127673094820:17,950,611C/T—uncertain significance
rs14267081020:17,950,616G/A—likely benign
rs148924868320:17,950,631A/C—likely benign
rs76744376020:17,950,633A/G—uncertain significance
rs53645761120:17,950,667A/C—uncertain significance
rs251522046720:17,950,670T/C—likely benign
rs203567850920:17,950,675C/T—uncertain significance
rs76072093920:17,950,679C/G—likely benign
rs76690996020:17,950,687C/T—uncertain significance
rs251522128720:17,950,705C/G—uncertain significance
rs136577235120:17,950,708C/T—uncertain significance
rs75987827820:17,950,711G/T—uncertain significance
rs19984505020:17,950,726A/G—uncertain significance
rs56073763020:17,950,736C/G—likely benign
rs15065627120:17,950,744C/G—conflicting classifications of pathogenicity
rs7310712020:17,950,772A/G—benign
rs75586227520:17,950,774G/T—uncertain significance
rs55472074020:17,950,785C/G—likely benign
rs37751911020:17,950,793A/G—likely benign
rs77701937420:17,950,816A/G—uncertain significance
rs119895262920:17,950,838A/G—likely benign
rs145602508420:17,950,849A/C—uncertain significance
rs20143399620:17,950,874C/G—likely benign
rs76388222020:17,950,878C/G—uncertain significance
rs20219083120:17,950,885A/C—uncertain significance
rs77983392620:17,950,894C/A—uncertain significance
rs14580179820:17,950,904C/G—likely benign
rs75476276620:17,950,909T/C—uncertain significance
rs203569043220:17,950,917C/T—pathogenic
rs74717863120:17,950,937G/C—uncertain significance
rs78129339020:17,950,950G/A—uncertain significance
rs137478721820:17,950,970G/T—uncertain significance
rs251522572820:17,950,980C/G—uncertain significance
rs127874880120:17,951,008C/T—uncertain significance
rs5704320520:17,951,137G/C—benign
rs14546538620:17,956,190C/G—benign
rs14920575720:17,956,207A/G—likely benign
rs77179568920:17,956,307T/C—likely benign
rs160038494720:17,956,317T/C—likely benign
rs18738477420:17,956,321T/C—likely benign
rs75378046920:17,956,328C/T—likely benign
rs14341744620:17,956,347C/T—conflicting classifications of pathogenicity
rs76785155320:17,956,348G/A—conflicting classifications of pathogenicity
rs75623454620:17,956,356G/A—uncertain significance
rs203584848020:17,956,358A/T—uncertain significance
rs37381613820:17,956,376T/C—likely benign
rs203584925720:17,956,378C/G—pathogenic
rs77952787520:17,956,381C/T—uncertain significance
rs13895625320:17,956,388A/G—likely benign
rs89067625620:17,956,406T/C—likely benign
rs76286603020:17,956,441T/C—uncertain significance
rs129284799220:17,956,450T/C—uncertain significance
rs101294173020:17,956,460T/C—likely benign
rs14662283220:17,956,466T/C—likely benign
rs37229107820:17,956,473C/T—pathogenic
rs20146586920:17,956,474G/A—uncertain significance
rs37700215920:17,956,478T/C—likely benign
rs75879288920:17,956,507T/C—uncertain significance
rs58777694420:17,956,513A/Gmissense variantpathogenic
rs101229797220:17,956,515A/G—likely benign
rs74669837520:17,956,517A/G—uncertain significance
rs14126604520:17,956,522T/C—uncertain significance
rs14497768820:17,956,536G/A—uncertain significance
rs76273514820:17,956,541G/T—uncertain significance
rs726110220:17,956,580G/A—benign
rs106408220:17,968,548G/A—benign
rs54325827620:17,968,563G/T—likely benign
rs203620075520:17,968,803C/G—likely benign
rs15128395820:17,968,812C/G—likely benign
rs75763703520:17,968,838C/T—uncertain significance
rs251532627520:17,968,861A/G—uncertain significance
rs7659908820:17,968,871T/C—likely benign
rs14245419520:17,968,880A/T—likely benign
rs20201170520:17,968,884A/T—likely benign
rs77202276620:17,968,895T/A—uncertain significance
rs14321898120:17,968,919A/G—conflicting classifications of pathogenicity
rs133182477520:17,968,920T/C—likely benign
rs2845509120:17,968,923T/C—benign
rs77484577520:17,968,926C/T—likely benign
rs37002165820:17,968,927A/G—uncertain significance
rs251532707720:17,968,934G/T—uncertain significance

Showing 100 of 123 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.