DNASE1L3

deoxyribonuclease 1L3

Summary

This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

Known Variants196 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7461007953:58,178,414C/A—uncertain significance
rs7801963153:58,178,422G/A—uncertain significance
rs24713009373:58,178,429C/G—uncertain significance
rs24713009503:58,178,432T/C—likely benign
rs7748171413:58,178,456T/A—uncertain significance
rs9700458783:58,178,472A/G—uncertain significance
rs1511619863:58,178,478C/T—uncertain significance
rs7592381093:58,178,480T/C—likely benign
rs7641806043:58,178,517C/G—uncertain significance
rs14591544193:58,178,519G/A—likely benign
rs1130052223:58,178,529G/C—uncertain significance
rs7501284753:58,178,533A/G—uncertain significance
rs24713010723:58,178,536A/T—likely benign
rs24713010763:58,178,539A/C—likely benign
rs14333693423:58,178,545G/C—likely benign
rs21073651643:58,178,548A/G—likely benign
rs13135699163:58,178,550G/C—uncertain significance
rs37326303:58,179,028T/C—benign
rs3736335513:58,179,053C/G—likely benign
rs3774659773:58,179,056G/A—likely benign
rs5635416303:58,179,060G/T—likely benign
rs7740026263:58,179,063A/T—likely benign
rs20973952893:58,179,066T/C—uncertain significance
rs21073657783:58,179,071T/C—uncertain significance
rs21073657833:58,179,073C/G—uncertain significance
rs1464449663:58,179,089T/G—uncertain significance
rs1382487403:58,179,094T/C—likely benign
rs15754944683:58,179,103G/T—uncertain significance
rs20973953183:58,179,126G/T—uncertain significance
rs7783877583:58,179,141C/T—uncertain significance
rs764407993:58,179,142G/C—uncertain significance
rs24713019573:58,179,149T/C—uncertain significance
rs13629011333:58,179,156T/C—uncertain significance
rs13260800523:58,179,160C/T—likely benign
rs7476989843:58,179,162C/G—uncertain significance
rs1868230383:58,179,169G/A—likely benign
rs7708325743:58,179,176G/A—likely benign
rs24713020573:58,179,178G/A—likely benign
rs38567083:58,181,500A/T——
rs7565264113:58,183,530C/A—likely benign
rs7477888093:58,183,538G/T—likely benign
rs7716972743:58,183,544C/T—uncertain significance
rs15754963193:58,183,553A/G—likely benign
rs5368130393:58,183,563T/C—uncertain significance
rs12773001163:58,183,568G/A—likely benign
rs7457058863:58,183,580C/T—likely benign
rs7695751903:58,183,581G/A—uncertain significance
rs3699010983:58,183,591C/G—uncertain significance
rs1810834543:58,183,598C/T—likely benign
rs7681885693:58,183,601G/T—likely benign
rs21073708563:58,183,606G/A—likely benign
rs5278091703:58,183,616C/T—likely benign
rs7509608353:58,183,621G/C—uncertain significance
rs7668633813:58,183,635C/T—uncertain significance
rs356774703:58,183,636G/Amissense variantlikely benign
rs7774300613:58,183,651C/T—uncertain significance
rs13449047453:58,183,656T/C—uncertain significance
rs13661943933:58,183,661G/A—likely benign
rs7457956463:58,183,664G/A—likely benign
rs7582816173:58,183,668C/T—likely benign
rs7752731813:58,183,672A/C—uncertain significance
rs2004572093:58,183,675C/T—uncertain significance
rs1484397073:58,183,676G/A—likely benign
rs24713063853:58,183,680T/C—pathogenic
rs15754964073:58,183,685G/A—likely benign
rs7612685393:58,183,688A/G—likely benign
rs13134604333:58,183,689C/G—uncertain significance
rs21073709903:58,183,709A/G—likely benign
rs21073738053:58,186,712A/G—likely benign
rs3731265313:58,186,716G/A—conflicting classifications of pathogenicity
rs7771615733:58,186,718C/A—uncertain significance
rs37729853:58,186,719A/C—uncertain significance
rs617300773:58,186,727C/T—likely benign
rs13465558863:58,186,729C/T—uncertain significance
rs21073738703:58,186,733C/T—likely pathogenic
rs37729863:58,186,737C/A—uncertain significance
rs24713094343:58,186,745C/T—likely benign
rs1466229513:58,186,748G/C—uncertain significance
rs1387204163:58,186,751C/G—likely benign
rs7610702973:58,186,754G/A—likely benign
rs7701370983:58,186,766C/G—uncertain significance
rs24713094683:58,186,768A/G—likely benign
rs1491856683:58,186,769C/T—likely benign
rs9192169553:58,186,774C/G—uncertain significance
rs1423618203:58,186,775G/C—likely benign
rs3754252783:58,186,787G/C—likely benign
rs1472194023:58,186,804T/G—uncertain significance
rs20974002623:58,186,805G/A—likely benign
rs7782046093:58,186,819T/C—likely benign
rs1468056333:58,186,822C/T—uncertain significance
rs7573661183:58,186,823G/A—likely benign
rs3708620103:58,186,826G/A—likely benign
rs2019289083:58,186,833A/G—uncertain significance
rs12017123923:58,186,844A/G—likely benign
rs11761396593:58,186,849A/G—likely benign
rs24713096713:58,186,851A/G—likely benign
rs24713096753:58,186,855G/T—likely benign
rs7529631213:58,186,856C/T—likely benign
rs42343893:58,186,911G/A—benign
rs7703600033:58,190,480C/G—likely benign

Showing 100 of 196 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.