DCLRE1C

DNA cross-link repair 1C

Summary

This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Known Variants798 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7679700310:14,941,205G/C—likely benign
rs90497264110:14,941,282G/A—likely benign
rs1159411110:14,945,406A/Gdownstream gene variant—
rs135200528910:14,948,872T/C—uncertain significance
rs55265623510:14,948,882T/A—uncertain significance
rs52845894610:14,948,920C/G—uncertain significance
rs53738368410:14,948,955C/T—uncertain significance
rs88604683310:14,948,999C/T—uncertain significance
rs88604683410:14,949,000G/A—uncertain significance
rs7567633610:14,949,013G/A—uncertain significance
rs1224595610:14,949,017A/C—uncertain significance
rs4130070010:14,949,068C/G—benign
rs4130069810:14,949,120A/G—benign
rs55497449810:14,949,127G/A—uncertain significance
rs53101747510:14,949,131G/C—uncertain significance
rs75476792210:14,949,171T/C—uncertain significance
rs4130069610:14,949,191C/T—uncertain significance
rs53269857610:14,949,192G/A—uncertain significance
rs55839282910:14,949,221A/C—uncertain significance
rs4130069410:14,949,233C/T—uncertain significance
rs4130069210:14,949,282A/G—benign
rs130589160410:14,949,299C/G—uncertain significance
rs4130068810:14,949,343T/C—uncertain significance
rs88604683510:14,949,347C/T—uncertain significance
rs183449649310:14,949,363T/C—uncertain significance
rs11600794410:14,949,432C/T—benign
rs53520803910:14,949,458C/G—uncertain significance
rs88604683710:14,949,492C/T—uncertain significance
rs57524297010:14,949,529G/C—uncertain significance
rs4130068410:14,949,559T/C—benign
rs19104227410:14,949,615T/G—benign
rs77328813110:14,949,635T/C—uncertain significance
rs95924313710:14,949,639C/A—uncertain significance
rs55071785710:14,949,648A/G—uncertain significance
rs4130068210:14,949,655A/G—benign
rs56637186210:14,949,791A/G—uncertain significance
rs56887382810:14,949,852T/C—uncertain significance
rs37328099610:14,949,856C/T—uncertain significance
rs3601761610:14,949,857T/C—uncertain significance
rs88604684110:14,949,867T/C—uncertain significance
rs88604684210:14,949,877T/G—uncertain significance
rs120501768710:14,949,901C/T—uncertain significance
rs146618450410:14,949,917A/G—uncertain significance
rs88604684410:14,949,925A/G—uncertain significance
rs55749667210:14,949,978G/A—uncertain significance
rs18979881410:14,950,016G/A—uncertain significance
rs88604684510:14,950,093C/T—uncertain significance
rs88604684610:14,950,101C/T—uncertain significance
rs8015670710:14,950,169T/G—uncertain significance
rs18810701810:14,950,228C/T—uncertain significance
rs88604684910:14,950,253C/A—uncertain significance
rs137481788110:14,950,333C/T—uncertain significance
rs36950999810:14,950,395C/T—conflicting classifications of pathogenicity
rs37408734910:14,950,396G/A—uncertain significance
rs37763902310:14,950,403A/G—conflicting classifications of pathogenicity
rs249161477510:14,950,421G/C—uncertain significance
rs77308626810:14,950,425G/A—likely benign
rs148719923210:14,950,436T/A—uncertain significance
rs213176774410:14,950,439T/G—uncertain significance
rs145523349810:14,950,440G/A—likely benign
rs103387737210:14,950,441A/T—uncertain significance
rs183467376610:14,950,444G/A—uncertain significance
rs15125951110:14,950,445C/G—uncertain significance
rs213176793810:14,950,446T/A—likely benign
rs14060290210:14,950,447A/G—uncertain significance
rs76488666410:14,950,448T/A—uncertain significance
rs144737185810:14,950,454C/T—uncertain significance
rs75229518510:14,950,455A/C—likely benign
rs75482908410:14,950,457C/T—uncertain significance
rs118685731310:14,950,458A/C—likely benign
rs75116218310:14,950,464C/T—likely benign
rs104675074310:14,950,467C/T—likely benign
rs126278789810:14,950,476T/C—likely benign
rs249161641810:14,950,479A/G—likely benign
rs15006303010:14,950,482T/C—likely benign
rs140908260310:14,950,484G/A—uncertain significance
rs6174916310:14,950,485T/C—likely benign
rs249161658510:14,950,488A/G—likely benign
rs183468381410:14,950,490G/C—uncertain significance
rs75530632610:14,950,491C/T—likely benign
rs183468522710:14,950,494T/C—likely benign
rs77915937810:14,950,495C/T—uncertain significance
rs20069313310:14,950,496G/A—conflicting classifications of pathogenicity
rs213176896110:14,950,498T/G—uncertain significance
rs155477349110:14,950,501G/A—uncertain significance
rs74716000210:14,950,506C/T—likely benign
rs213176912110:14,950,507T/C—uncertain significance
rs183468853110:14,950,508C/G—uncertain significance
rs213176917810:14,950,509A/T—likely benign
rs77644693010:14,950,514C/T—uncertain significance
rs213176925510:14,950,515T/C—likely benign
rs14135743910:14,950,519G/A—uncertain significance
rs77515678210:14,950,522G/A—uncertain significance
rs76267010110:14,950,523A/G—uncertain significance
rs144994070410:14,950,529C/A—uncertain significance
rs249161742310:14,950,531T/C—uncertain significance
rs103902660510:14,950,532C/T—uncertain significance
rs14464146110:14,950,534A/G—uncertain significance
rs76142449410:14,950,542A/G—likely benign
rs75532529310:14,950,548C/T—likely benign

Showing 100 of 798 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.