RNASEH2B

ribonuclease H2 subunit B

Summary

RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]

Known Variants413 total

rsidPosition (GRCh37)AllelesClassClinVar
rs6196219213:51,483,184T/Cupstream gene variant—
rs8024910913:51,483,624C/G—likely benign
rs11620535313:51,483,711A/G—benign
rs55396542513:51,483,814C/G—uncertain significance
rs88605028713:51,483,900C/G—uncertain significance
rs187922315013:51,483,919C/T—uncertain significance
rs187922337213:51,483,920A/G—uncertain significance
rs57772582713:51,483,985C/A—uncertain significance
rs11270217713:51,484,003G/C—likely benign
rs88605028813:51,484,032G/A—uncertain significance
rs122769644513:51,484,068G/A—uncertain significance
rs55344626113:51,484,096C/G—likely benign
rs18457372213:51,484,101T/C—likely benign
rs88605028913:51,484,106G/A—uncertain significance
rs145749479413:51,484,214T/C—conflicting classifications of pathogenicity
rs88604137713:51,484,215G/Amissense variantpathogenic
rs116185351313:51,484,216G/C—uncertain significance
rs254162039813:51,484,218C/G—likely benign
rs254162042613:51,484,221T/G—likely benign
rs129858197213:51,484,224C/G—likely benign
rs254162046313:51,484,227G/T—likely benign
rs254162047113:51,484,228G/T—uncertain significance
rs213786626113:51,484,230C/T—conflicting classifications of pathogenicity
rs55157369213:51,484,232G/A—uncertain significance
rs187925890813:51,484,233C/T—likely benign
rs187925964513:51,484,237G/C—uncertain significance
rs92992290513:51,484,238A/T—uncertain significance
rs131477991313:51,484,240G/C—uncertain significance
rs134049333413:51,484,241G/A—uncertain significance
rs124456739313:51,484,242G/A—likely benign
rs128900412313:51,484,243G/T—uncertain significance
rs123702442713:51,484,247G/A—uncertain significance
rs57156622913:51,484,251C/T—likely benign
rs90087693713:51,484,252C/T—uncertain significance
rs98813486413:51,484,253G/A—uncertain significance
rs76310364213:51,484,258C/T—uncertain significance
rs75887726813:51,484,264T/A—uncertain significance
rs213786661913:51,484,266C/T—likely benign
rs118179866213:51,484,267C/T—likely benign
rs102853041813:51,484,270G/C—conflicting classifications of pathogenicity
rs7936798113:51,484,277G/A——
rs254162089213:51,484,279A/G—uncertain significance
rs95777735713:51,484,284C/T—likely benign
rs254162096513:51,484,287G/A—likely benign
rs254162100113:51,484,289G/T—likely benign
rs254162100613:51,484,290C/T—likely benign
rs132143479813:51,484,292C/T—likely benign
rs145140227313:51,484,293G/A—likely benign
rs227406913:51,484,356C/T—benign
rs953552613:51,484,445C/T—benign
rs213792471213:51,501,524A/G—likely benign
rs213792472913:51,501,525T/A—likely benign
rs77964642513:51,501,529C/T—likely benign
rs117679748113:51,501,530G/A—pathogenic
rs37435828113:51,501,532T/C—likely benign
rs254149086813:51,501,542G/A—likely pathogenic
rs77832990913:51,501,547T/A—pathogenic
rs74805238913:51,501,550A/T—uncertain significance
rs195161323713:51,501,555A/G—uncertain significance
rs116305612613:51,501,556T/C—likely benign
rs76330891713:51,501,557G/A—uncertain significance
rs133461458513:51,501,558C/T—uncertain significance
rs77147250913:51,501,561C/G—pathogenic
rs139560202513:51,501,566A/G—uncertain significance
rs54260018613:51,501,570T/C—uncertain significance
rs77588009213:51,501,574A/G—likely benign
rs76427078313:51,501,580G/A—likely benign
rs145823458413:51,501,589T/G—uncertain significance
rs120386639313:51,501,599G/A—uncertain significance
rs254149111713:51,501,604C/T—likely benign
rs76228156913:51,501,605C/T—uncertain significance
rs7956486313:51,501,606C/Amissense variantuncertain significance
rs19983972813:51,501,607C/A—likely benign
rs7487670213:51,501,610T/Astop gainedpathogenic
rs89197289213:51,501,622C/T—conflicting classifications of pathogenicity
rs76667902613:51,501,624C/G—likely benign
rs213792521413:51,501,629C/A—likely benign
rs11596725813:51,501,793A/C—likely benign
rs20181471013:51,503,592G/C—benign
rs140663656313:51,503,596G/T—likely benign
rs136455069913:51,503,598T/G—uncertain significance
rs76192156813:51,503,601G/A—likely benign
rs142243156813:51,503,603C/T—likely benign
rs130041918113:51,503,607A/C—uncertain significance
rs195164863213:51,503,617G/A—uncertain significance
rs195164877613:51,503,620C/T—uncertain significance
rs254149540313:51,503,624T/C—likely benign
rs77250341313:51,503,627C/T—likely benign
rs3541674813:51,503,630G/T—uncertain significance
rs254149543713:51,503,636T/A—uncertain significance
rs129284106213:51,503,639G/T—uncertain significance
rs145840747613:51,503,643C/A—uncertain significance
rs115660086113:51,503,645A/G—likely benign
rs7532654613:51,503,646C/Tstop gainedpathogenic
rs75925166713:51,503,647A/G—uncertain significance
rs14188167213:51,503,651G/A—likely benign
rs254149553713:51,503,652C/T—likely benign
rs7532595113:51,503,653T/Gmissense variantpathogenic
rs55687786913:51,503,654G/C—likely benign
rs36858916613:51,503,657T/C—likely benign

Showing 100 of 413 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.