DNASE1

deoxyribonuclease 1

Summary

This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

Known Variants42 total

rsidPosition (GRCh37)AllelesClassClinVar
rs817692716:3,705,380G/Tmissense variant—
rs12191299016:3,705,387A/Tstop gainedrisk factor
rs75849799416:3,705,427A/C—uncertain significance
rs74552331716:3,705,435G/A—uncertain significance
rs77974713516:3,705,454C/T—uncertain significance
rs7725404016:3,705,465C/T—likely pathogenic
rs3490739416:3,705,479G/C—likely benign
rs77165578716:3,705,493A/G—uncertain significance
rs14405831716:3,705,500C/T—likely benign
rs55712288016:3,705,870C/T—likely benign
rs254828392116:3,706,146G/C—uncertain significance
rs14400709916:3,706,166G/A—likely benign
rs817692816:3,706,185A/Gmissense variantbenign
rs215122071616:3,706,643G/C—uncertain significance
rs3492386516:3,706,668C/A—benign
rs78040846516:3,706,696C/T—likely benign
rs817691916:3,706,697G/A—likely benign
rs14405989916:3,706,703G/A—uncertain significance
rs15062132916:3,706,716G/A—uncertain significance
rs14935720016:3,706,980C/T—uncertain significance
rs145587298916:3,707,002G/A—conflicting classifications of pathogenicity
rs254828782616:3,707,016C/T—likely benign
rs179989116:3,707,023C/G—benign
rs5962176016:3,707,064C/T—likely benign
rs817693816:3,707,091C/G—benign
rs75729236716:3,707,106C/T—likely benign
rs76943673816:3,707,190C/T—likely benign
rs7489255016:3,707,191G/A—likely benign
rs817535216:3,707,205C/T—likely benign
rs14337193616:3,707,216C/T—uncertain significance
rs14837390916:3,707,257C/T—conflicting classifications of pathogenicity
rs817692016:3,707,262G/A—benign
rs94736364516:3,707,277C/T—likely benign
rs3418603116:3,707,293C/T—uncertain significance
rs119606172616:3,707,308A/C—uncertain significance
rs179989216:3,707,409G/C—benign
rs20014998416:3,707,728G/A—uncertain significance
rs105387416:3,707,747G/Amissense variantrisk factor
rs74879148316:3,707,756T/C—uncertain significance
rs20197581216:3,707,763C/T—conflicting classifications of pathogenicity
rs14776316616:3,707,796C/A—likely benign
rs15071776916:3,709,834G/Adownstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.