TOP3A

DNA topoisomerase III alpha

Summary

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]

Known Variants324 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1294559717:18,174,681G/Adownstream gene variant—
rs254558506517:18,178,148G/A—uncertain significance
rs214292434517:18,178,160G/A—uncertain significance
rs144939232817:18,178,176C/T—likely benign
rs76540459217:18,178,177C/T—uncertain significance
rs75477204317:18,178,219C/T—uncertain significance
rs137777512817:18,178,235T/C—uncertain significance
rs54167215717:18,178,242C/T—likely benign
rs13968274017:18,178,243G/A—conflicting classifications of pathogenicity
rs126263073517:18,178,269T/C—likely benign
rs197924604317:18,178,290A/T—likely benign
rs76214992517:18,178,299C/T—likely benign
rs76644044317:18,178,312G/A—likely benign
rs254558555017:18,178,314A/G—likely benign
rs76918010017:18,180,975C/T—likely benign
rs75671172217:18,180,995C/T—uncertain significance
rs14083773717:18,180,996G/A—likely benign
rs75546282617:18,181,007C/T—uncertain significance
rs14722546517:18,181,008G/A—likely benign
rs57814384117:18,181,037C/A—uncertain significance
rs14057633917:18,181,041C/T—likely benign
rs37308071817:18,181,042G/A—uncertain significance
rs76756054217:18,181,047G/C—likely benign
rs140964682417:18,181,062C/T—likely benign
rs77536195217:18,181,068C/A—likely benign
rs76033413417:18,181,071C/T—likely benign
rs76383279417:18,181,074G/C—uncertain significance
rs14554129217:18,181,106C/T—uncertain significance
rs36904956217:18,181,107G/A—likely benign
rs74587910017:18,181,147C/T—conflicting classifications of pathogenicity
rs3409803717:18,181,176G/A—benign
rs54093755117:18,181,191T/A—likely benign
rs37484560817:18,181,205G/C—uncertain significance
rs14255827117:18,181,212G/A—likely benign
rs76863065517:18,181,219G/A—uncertain significance
rs37539026717:18,181,224A/G—likely benign
rs155556807717:18,181,228G/A—uncertain significance
rs76256146417:18,181,254C/T—likely benign
rs20194238017:18,181,258T/C—conflicting classifications of pathogenicity
rs14082262817:18,181,266G/A—likely benign
rs14457782717:18,181,285T/C—conflicting classifications of pathogenicity
rs14466587717:18,181,298C/T—likely benign
rs36821050417:18,181,318C/T—uncertain significance
rs103294156717:18,181,323C/T—likely benign
rs76257137817:18,181,324C/T—conflicting classifications of pathogenicity
rs254558997317:18,181,326G/A—likely benign
rs53805347817:18,181,327T/C—uncertain significance
rs197950160617:18,181,339T/C—uncertain significance
rs36843183417:18,181,342C/T—uncertain significance
rs76238256717:18,181,343G/A—uncertain significance
rs55166074117:18,181,344G/A—likely benign
rs254559009217:18,181,355G/C—uncertain significance
rs214293344317:18,181,374G/A—likely benign
rs13862697517:18,181,381G/A—conflicting classifications of pathogenicity
rs14069176917:18,181,386A/C—likely benign
rs136659344417:18,181,390T/C—uncertain significance
rs159795396317:18,181,398A/C—likely benign
rs53412807417:18,181,407C/T—likely benign
rs77400914117:18,181,408G/A—uncertain significance
rs57242484117:18,181,430C/G—uncertain significance
rs130056413617:18,181,476G/A—likely benign
rs140219185917:18,181,477T/C—uncertain significance
rs991128317:18,181,499T/C—conflicting classifications of pathogenicity
rs37236003717:18,181,502G/C—uncertain significance
rs197952291317:18,181,520G/A—likely benign
rs36970096217:18,181,521G/A—likely benign
rs77854483217:18,181,523G/A—uncertain significance
rs77178792917:18,181,530G/A—likely benign
rs52777776517:18,181,540G/A—uncertain significance
rs14959689417:18,181,546G/A—conflicting classifications of pathogenicity
rs75975844417:18,181,552C/G—uncertain significance
rs54440721417:18,181,557T/G—likely benign
rs76405677017:18,181,571C/G—uncertain significance
rs14327717517:18,181,588G/C—uncertain significance
rs990973217:18,181,592C/T—benign
rs74656068117:18,181,593G/A—likely benign
rs76831504517:18,181,596G/A—likely benign
rs14302027317:18,181,600C/A—uncertain significance
rs14744711317:18,181,601C/T—uncertain significance
rs14061699317:18,181,602G/A—likely benign
rs14289115317:18,181,631T/C—uncertain significance
rs75128098017:18,181,636G/A—uncertain significance
rs15078268717:18,181,650G/C—likely benign
rs20028126917:18,181,651C/T—uncertain significance
rs74626963317:18,181,656A/T—uncertain significance
rs77578024517:18,181,665C/T—likely benign
rs13913930917:18,181,667T/G—uncertain significance
rs159795460317:18,181,679G/A—likely benign
rs76526332817:18,181,690G/A—likely benign
rs74639407117:18,183,861G/T—uncertain significance
rs92661114917:18,183,870A/G—likely benign
rs77336932817:18,183,912C/T—likely benign
rs75922856917:18,183,929C/A—uncertain significance
rs76723797317:18,183,930A/G—likely benign
rs123927692717:18,183,938G/A—uncertain significance
rs254559417817:18,183,939A/G—likely benign
rs76360513817:18,183,956T/C—uncertain significance
rs14991240117:18,183,963G/A—likely benign
rs20165542517:18,183,978G/A—likely benign
rs37740328617:18,183,980C/T—likely benign

Showing 100 of 324 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.