RNASEH2A

ribonuclease H2 subunit A

Summary

The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]

Known Variants403 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1246155919:12,917,100G/C—benign
rs196899181319:12,917,419G/A—uncertain significance
rs37528176719:12,917,439C/T—uncertain significance
rs88605423519:12,917,463A/G—uncertain significance
rs104622019:12,917,472C/T—benign
rs76581846219:12,917,488A/G—conflicting classifications of pathogenicity
rs76133171719:12,917,491G/T—uncertain significance
rs148997327219:12,917,492A/G—uncertain significance
rs76468544319:12,917,495T/C—uncertain significance
rs86717900819:12,917,500G/T—pathogenic
rs55695580119:12,917,502G/A—likely benign
rs214582398619:12,917,503C/T—likely benign
rs251288895619:12,917,505G/A—likely benign
rs101092303719:12,917,508G/A—likely benign
rs251288897419:12,917,512G/A—uncertain significance
rs155573430019:12,917,516A/G—uncertain significance
rs37326536219:12,917,519C/T—uncertain significance
rs1155440019:12,917,520G/A—benign
rs77929856519:12,917,521G/A—uncertain significance
rs37513949219:12,917,523C/T—conflicting classifications of pathogenicity
rs128938318019:12,917,525G/T—uncertain significance
rs196899508319:12,917,531G/A—uncertain significance
rs196899512319:12,917,532C/A—likely benign
rs54061182319:12,917,533C/T—likely benign
rs123396090319:12,917,541G/T—likely benign
rs103951946219:12,917,542C/G—uncertain significance
rs74709095019:12,917,550C/T—likely benign
rs76862581319:12,917,552C/T—uncertain significance
rs39751548019:12,917,556G/Asynonymous variantpathogenic
rs54604266619:12,917,560C/T—uncertain significance
rs95563139119:12,917,561G/T—uncertain significance
rs39751547919:12,917,562C/Tsynonymous variantpathogenic
rs120379500819:12,917,563A/G—uncertain significance
rs77004494619:12,917,566G/C—uncertain significance
rs251288911819:12,917,567A/G—uncertain significance
rs196899622419:12,917,568G/A—likely benign
rs156838645219:12,917,570C/A—uncertain significance
rs251288913519:12,917,574C/A—pathogenic
rs141493604719:12,917,581G/A—uncertain significance
rs196899646519:12,917,583C/A—likely benign
rs76251671419:12,917,588A/G—uncertain significance
rs251288920119:12,917,589T/C—likely benign
rs77406365319:12,917,595G/A—likely benign
rs7685710619:12,917,596G/Amissense variantpathogenic
rs1155440519:12,917,597G/A—uncertain significance
rs214582417719:12,917,600G/A—uncertain significance
rs214582420019:12,917,606C/T—uncertain significance
rs75442885019:12,917,607C/A—likely benign
rs121252855819:12,917,610G/C—likely benign
rs148263300219:12,917,612T/C—uncertain significance
rs76236386119:12,917,613G/C—uncertain significance
rs125257641019:12,917,614G/C—uncertain significance
rs127382289919:12,917,615G/C—likely pathogenic
rs139540944319:12,917,621C/T—likely benign
rs75073586119:12,917,622C/T—likely benign
rs117573351019:12,917,623C/T—likely benign
rs135768464219:12,917,624T/A—likely benign
rs122747151619:12,917,626G/T—likely benign
rs75861931319:12,917,628G/T—likely benign
rs251288932119:12,917,629C/T—likely benign
rs78029653919:12,917,630C/T—likely benign
rs75167457619:12,917,631A/G—likely benign
rs1334572019:12,917,686T/C—benign
rs5566892719:12,917,761A/T—benign
rs131550029719:12,917,802C/T—likely benign
rs120418810319:12,917,808C/A—likely benign
rs20134541419:12,917,809C/T—likely benign
rs251288962419:12,917,810C/T—likely benign
rs75179926019:12,917,811C/G—likely benign
rs196900243719:12,917,818C/G—likely benign
rs75513369719:12,917,822G/T—uncertain significance
rs75276215719:12,917,826C/T—likely benign
rs118728321119:12,917,829G/A—uncertain significance
rs75607326219:12,917,832C/T—likely benign
rs95114334819:12,917,835C/T—likely benign
rs77773486819:12,917,836G/A—uncertain significance
rs74908558919:12,917,837C/G—uncertain significance
rs77178985419:12,917,854C/G—uncertain significance
rs196900341219:12,917,860C/T—uncertain significance
rs76184131319:12,917,861G/T—uncertain significance
rs77519461719:12,917,863C/G—uncertain significance
rs76634326919:12,917,869G/C—uncertain significance
rs77379544019:12,917,871T/C—likely benign
rs37330198319:12,917,873T/C—conflicting classifications of pathogenicity
rs75981359219:12,917,880G/A—likely benign
rs196900387819:12,917,881C/T—likely benign
rs214582458419:12,917,890G/T—uncertain significance
rs76772327519:12,917,892A/T—uncertain significance
rs128909047719:12,917,894G/C—likely pathogenic
rs196900413519:12,917,898G/T—uncertain significance
rs20083448419:12,917,901C/G—conflicting classifications of pathogenicity
rs37077599719:12,917,902G/C—likely benign
rs251288986619:12,917,905G/T—likely benign
rs54302886619:12,917,910C/G—likely benign
rs99256167019:12,917,911G/C—likely benign
rs251289002519:12,918,000T/G—likely benign
rs75380144819:12,918,001C/T—likely benign
rs251289003419:12,918,004C/G—likely benign
rs76189618519:12,918,005C/T—likely benign
rs214582472519:12,918,008A/T—likely benign

Showing 100 of 403 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.