TOP1MT

DNA topoisomerase I mitochondrial

Summary

This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

Known Variants179 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1448598398:144,391,613A/T—uncertain significance
rs1126722438:144,391,638G/A—benign
rs1450539758:144,391,640C/T—uncertain significance
rs1471545288:144,391,663C/T—likely benign
rs1404123708:144,391,664G/A—uncertain significance
rs25372978978:144,391,666T/G—uncertain significance
rs2003932928:144,391,705C/T—uncertain significance
rs5551356918:144,391,711C/T—uncertain significance
rs2010638898:144,391,718G/A—benign
rs73864758:144,391,728A/G—benign
rs1403273778:144,392,242C/T—uncertain significance
rs10401627058:144,392,279C/T—likely benign
rs7615191888:144,392,280G/C—uncertain significance
rs7588969668:144,392,332G/A—likely benign
rs1882001248:144,392,336C/T—likely benign
rs1499533168:144,392,344G/A—uncertain significance
rs7698457688:144,392,357C/G—uncertain significance
rs22939258:144,392,368G/A—benign
rs18159726428:144,392,383G/A—likely benign
rs7523482908:144,392,405G/A—likely benign
rs70025598:144,393,459T/G——
rs7577642618:144,397,885A/T—likely benign
rs285359938:144,397,887G/A—benign
rs25373350428:144,397,930T/A—uncertain significance
rs14182596618:144,397,935C/A—uncertain significance
rs13256342198:144,397,939G/A—uncertain significance
rs14350990878:144,397,947C/A—uncertain significance
rs13902916318:144,397,948A/G—uncertain significance
rs7687461338:144,398,172C/T—benign
rs7477096718:144,398,179A/G—uncertain significance
rs1411451968:144,398,191G/A—likely benign
rs1860237728:144,398,203G/A—uncertain significance
rs1412920828:144,398,206C/T—uncertain significance
rs1450791378:144,398,212G/A—uncertain significance
rs2000385908:144,398,219G/A—uncertain significance
rs1508977898:144,398,257C/T—uncertain significance
rs2005738788:144,398,258G/A—uncertain significance
rs7777288918:144,398,294C/T—uncertain significance
rs1995993268:144,398,295G/A—likely benign
rs7808285758:144,398,307C/T—likely benign
rs1383301448:144,399,894G/A—uncertain significance
rs14425653338:144,399,895C/T—uncertain significance
rs2003780248:144,399,897C/T—likely benign
rs1433786948:144,399,900C/T—likely benign
rs9606778498:144,399,907C/T—uncertain significance
rs2013575798:144,399,923G/A—likely benign
rs1439749888:144,399,936G/A—likely benign
rs1995145778:144,399,942G/C—likely benign
rs7709798858:144,399,946C/T—uncertain significance
rs7767878198:144,399,947G/A—uncertain significance
rs7741021328:144,399,958G/A—uncertain significance
rs7658975768:144,399,989G/A—uncertain significance
rs1468273428:144,399,993G/A—benign
rs7587801148:144,400,013G/A—likely benign
rs1393127188:144,400,021T/C—benign
rs1843025198:144,400,180C/T—benign
rs348849958:144,400,209G/A—benign
rs12047361698:144,400,232T/C—uncertain significance
rs3691554548:144,400,254C/T—benign
rs2019909308:144,400,273G/A—likely benign
rs7727891598:144,403,358C/T—likely benign
rs3740304708:144,403,371C/G—uncertain significance
rs2006167398:144,403,384G/T—uncertain significance
rs7799702438:144,403,392G/C—uncertain significance
rs7788582358:144,403,402C/G—uncertain significance
rs18163334878:144,403,418C/A—uncertain significance
rs1467093618:144,403,424A/C—uncertain significance
rs25373670568:144,403,429A/T—uncertain significance
rs3737883598:144,403,436C/G—uncertain significance
rs616316238:144,403,449G/A—benign
rs7535937968:144,403,454C/T—uncertain significance
rs18163353738:144,403,461C/G—likely benign
rs3762107388:144,403,462G/A—uncertain significance
rs115444828:144,403,485G/C—benign
rs727017208:144,403,487G/A—likely benign
rs1143796238:144,403,505C/A—benign
rs3736524518:144,403,523C/T—uncertain significance
rs2004145978:144,403,532T/C—uncertain significance
rs12755601808:144,403,548C/T—likely benign
rs3689199858:144,403,551T/G—likely benign
rs7613813048:144,403,565T/G—likely benign
rs3715326808:144,406,158A/G—benign
rs7814613708:144,406,168C/A—uncertain significance
rs1437691458:144,406,174C/G—uncertain significance
rs7649451908:144,406,194G/A—uncertain significance
rs3755612048:144,406,198G/A—uncertain significance
rs7520052418:144,406,207T/G—uncertain significance
rs2019776828:144,406,218C/T—conflicting classifications of pathogenicity
rs13187760588:144,406,221G/C—uncertain significance
rs5777734388:144,406,236C/T—conflicting classifications of pathogenicity
rs1440924478:144,406,249G/A—uncertain significance
rs7749427918:144,406,269C/T—uncertain significance
rs7634414428:144,406,270G/A—uncertain significance
rs25374285328:144,406,287T/C—uncertain significance
rs9406043158:144,406,290A/G—uncertain significance
rs9888128448:144,406,311C/G—uncertain significance
rs1468546028:144,406,312C/A—uncertain significance
rs7561193098:144,406,318C/T—likely benign
rs5500621058:144,406,648C/T—likely benign
rs1386428768:144,406,665G/A—uncertain significance

Showing 100 of 179 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.