RECQL5

RecQ like helicase 5

Summary

The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

Known Variants137 total

rsidPosition (GRCh37)AllelesClassClinVar
rs55319260717:73,623,528G/A—uncertain significance
rs20183033417:73,623,542C/T—uncertain significance
rs75200645317:73,623,547G/A—likely benign
rs20106005417:73,623,553G/A—likely benign
rs37554342317:73,623,606C/T—likely benign
rs19964139917:73,623,697G/A—benign
rs20053547717:73,623,750C/T—benign
rs75353730017:73,623,751G/A—uncertain significance
rs19982453517:73,623,753G/A—uncertain significance
rs254550283717:73,623,761T/A—uncertain significance
rs20184148717:73,623,774T/C—likely benign
rs37694985917:73,624,348C/T—uncertain significance
rs140455517217:73,624,350A/G—uncertain significance
rs14056532017:73,624,353T/G—likely benign
rs254550684717:73,624,359G/A—uncertain significance
rs18980593417:73,624,375C/T—uncertain significance
rs76940863017:73,624,384C/T—uncertain significance
rs36829573117:73,624,386G/C—uncertain significance
rs37222192017:73,624,387A/G—likely benign
rs75955635917:73,624,407G/C—uncertain significance
rs92838068217:73,624,434C/G—uncertain significance
rs36793709417:73,624,465C/T—likely benign
rs14001042717:73,624,466G/A—benign
rs20190359617:73,624,468C/T—uncertain significance
rs77561616317:73,624,472G/C—likely benign
rs37235513317:73,624,488C/T—uncertain significance
rs77849874917:73,624,763G/A—uncertain significance
rs254550973217:73,624,766G/A—uncertain significance
rs76860975217:73,624,793C/T—likely benign
rs254551009317:73,624,823G/C—uncertain significance
rs77180201617:73,624,825T/A—uncertain significance
rs37447609217:73,624,826C/T—uncertain significance
rs54747387717:73,624,834G/A—likely benign
rs19990783017:73,625,030G/A—uncertain significance
rs3480283417:73,625,059G/A—benign
rs103141589117:73,625,063G/A—uncertain significance
rs77916483517:73,625,072C/T—uncertain significance
rs159897857217:73,625,163T/C—likely benign
rs53620710517:73,625,165A/C—uncertain significance
rs76359709017:73,625,170A/T—uncertain significance
rs3435428117:73,625,173A/G—likely benign
rs18184359817:73,625,179G/A—likely benign
rs74977616917:73,625,197C/T—uncertain significance
rs11400304717:73,625,210C/T—benign
rs76507295117:73,625,221G/C—uncertain significance
rs11400690217:73,625,231G/A—benign
rs205915959017:73,625,243C/T—uncertain significance
rs77585389817:73,625,260T/C—uncertain significance
rs76205792717:73,625,269C/T—uncertain significance
rs82019017:73,625,286G/A—benign
rs20042999417:73,625,328C/T—likely benign
rs37530388917:73,625,336A/T—uncertain significance
rs19962188417:73,625,342C/T—uncertain significance
rs37620871017:73,625,417G/A—uncertain significance
rs19960883517:73,625,422G/A—uncertain significance
rs478890217:73,625,430A/G—benign
rs76945404217:73,625,435C/T—uncertain significance
rs3494141117:73,625,443C/T—uncertain significance
rs37345175517:73,625,444G/A—uncertain significance
rs93162708717:73,625,476G/A—uncertain significance
rs36966677917:73,625,500G/A—uncertain significance
rs53369226817:73,625,518C/A—uncertain significance
rs7741720917:73,625,543G/A—uncertain significance
rs254551451617:73,625,545T/C—uncertain significance
rs121424893417:73,625,816T/G—uncertain significance
rs3556678017:73,625,852C/T—benign
rs131094310717:73,625,865C/G—uncertain significance
rs11279739717:73,625,932G/A—benign
rs78013553717:73,626,311G/A—uncertain significance
rs20183812117:73,626,335C/T—uncertain significance
rs254551874517:73,626,341T/C—uncertain significance
rs19997562217:73,626,346C/T—likely benign
rs77382418017:73,626,347G/A—uncertain significance
rs3485076917:73,626,691G/A—benign
rs77169254917:73,626,706C/T—likely benign
rs20034210517:73,626,737C/T—likely benign
rs77934042217:73,626,768C/T—uncertain significance
rs76188678517:73,626,864C/G—uncertain significance
rs11315092117:73,626,924G/T—benign
rs7463250317:73,626,925G/T—benign
rs54196479617:73,626,926G/T—benign
rs77097252617:73,626,927G/T—likely benign
rs77830977617:73,627,062A/G—uncertain significance
rs7530320417:73,627,233G/A—likely benign
rs37511749117:73,627,235G/A—uncertain significance
rs20183485317:73,627,242C/T—uncertain significance
rs147657350617:73,627,258A/G—uncertain significance
rs77893922917:73,627,265T/G—uncertain significance
rs120184014617:73,627,291C/T—uncertain significance
rs19992470617:73,627,319C/T—likely benign
rs3527397817:73,627,323G/A—likely benign
rs82019617:73,627,539T/Cmissense variantbenign
rs75275937217:73,627,544G/A—likely benign
rs124227341117:73,627,553G/A—likely benign
rs75280471017:73,627,603C/A—uncertain significance
rs20215220117:73,627,650C/T—likely benign
rs20194086017:73,627,661G/A—likely benign
rs20120638717:73,627,696C/T—likely benign
rs19995639817:73,627,697G/A—likely benign
rs82020017:73,632,030C/Aregulatory region variant—

Showing 100 of 137 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.