ADA

adenosine deaminase

Summary

This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019]

Known Variants513 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18875507720:43,248,193G/A—likely benign
rs88605670620:43,248,301A/T—uncertain significance
rs1190652620:43,248,302C/G—likely benign
rs90106057320:43,248,313C/T—uncertain significance
rs56085856520:43,248,323G/A—uncertain significance
rs18391422220:43,248,471G/A—likely benign
rs37533959120:43,248,478G/A—likely benign
rs74829972420:43,248,489C/T—uncertain significance
rs36799152120:43,248,494C/T—likely benign
rs55193440220:43,248,495G/A—likely benign
rs251615719920:43,248,500T/C—likely benign
rs251615720320:43,248,502C/T—likely benign
rs38790626820:43,248,503A/T—pathogenic
rs74981461320:43,248,504G/A—likely benign
rs76215411720:43,248,506G/A—likely benign
rs251615723820:43,248,508A/G—likely benign
rs4556773420:43,248,841G/A—benign
rs4556703720:43,248,853T/C—benign
rs206531631820:43,248,926A/T—likely benign
rs251615861020:43,248,932G/C—likely benign
rs75299268520:43,248,933A/G—likely benign
rs155584317820:43,248,938A/T—likely pathogenic
rs145033785720:43,248,939C/T—likely pathogenic
rs206531659020:43,248,941T/A—uncertain significance
rs117060899920:43,248,943C/A—uncertain significance
rs37181475620:43,248,953A/G—likely benign
rs212350771720:43,248,958G/A—uncertain significance
rs251615871420:43,248,959C/T—uncertain significance
rs251615871820:43,248,960A/T—uncertain significance
rs206531693220:43,248,964C/T—uncertain significance
rs132093291120:43,248,974A/G—likely benign
rs212350779820:43,248,980C/T—likely benign
rs92570651620:43,248,983G/A—likely benign
rs77953070520:43,248,985C/A—uncertain significance
rs74633742020:43,248,986G/A—likely benign
rs251615887720:43,248,992C/T—likely benign
rs212350787120:43,248,994C/A—pathogenic
rs251615889020:43,248,995C/T—likely benign
rs76157288420:43,248,998C/T—likely benign
rs251615895120:43,249,007T/C—likely benign
rs115697651020:43,249,009C/A—pathogenic
rs76261467820:43,249,010T/C—likely benign
rs145572963520:43,249,013G/C—likely benign
rs37213183020:43,249,026T/G—uncertain significance
rs12190871520:43,249,032G/Amissense variantpathogenic
rs75632974920:43,249,034A/T—uncertain significance
rs91291410020:43,249,043C/G—pathogenic
rs94974541620:43,249,044T/C—pathogenic
rs75737535120:43,249,046G/A—likely benign
rs212350819020:43,249,050G/T—likely benign
rs77882674820:43,249,051G/C—likely benign
rs135549448820:43,249,052C/T—likely benign
rs251615917220:43,249,057A/G—likely benign
rs251615918120:43,249,059G/A—likely benign
rs131814688520:43,249,061C/G—likely benign
rs119449405020:43,249,076C/T—likely pathogenic
rs603167820:43,249,591T/C—benign
rs251616125720:43,249,641T/A—likely benign
rs251616126220:43,249,644C/G—likely benign
rs20066039920:43,249,645T/C—likely benign
rs20200671320:43,249,646C/T—likely benign
rs37314614520:43,249,649A/G—likely benign
rs19214818520:43,249,651C/T—likely benign
rs212351057120:43,249,652C/G—likely benign
rs251616133920:43,249,657A/C—pathogenic
rs206532589820:43,249,658C/T—pathogenic
rs251616134620:43,249,662C/G—uncertain significance
rs206532626020:43,249,680A/G—likely benign
rs75040474620:43,249,686G/A—likely benign
rs88982337920:43,249,689C/T—uncertain significance
rs75850165320:43,249,690A/G—uncertain significance
rs139860918020:43,249,692G/A—likely benign
rs54756981820:43,249,693T/C—uncertain significance
rs92365078720:43,249,694C/A—uncertain significance
rs212351081020:43,249,695C/G—likely benign
rs74750086420:43,249,696C/T—uncertain significance
rs7924985020:43,249,697G/A—uncertain significance
rs74897467420:43,249,699T/C—uncertain significance
rs53013129020:43,249,700T/G—uncertain significance
rs251616151420:43,249,701G/C—likely benign
rs77391413520:43,249,702G/A—uncertain significance
rs14592485420:43,249,704C/T—uncertain significance
rs13987171920:43,249,707C/T—likely benign
rs125139044720:43,249,722C/T—likely benign
rs19942232720:43,249,723A/Cmissense variantpathogenic
rs206532697020:43,249,725G/A—likely benign
rs212351099320:43,249,728G/A—likely benign
rs141610954020:43,249,732T/C—uncertain significance
rs37130575120:43,249,735A/C—uncertain significance
rs125973899520:43,249,740G/A—likely benign
rs251616168820:43,249,741A/C—uncertain significance
rs77636014620:43,249,743C/T—likely benign
rs12190871820:43,249,744G/Tmissense variantpathogenic
rs212351116320:43,249,746G/A—likely benign
rs212351118220:43,249,752T/G—likely benign
rs14323607420:43,249,761C/T—likely benign
rs12190872120:43,249,762G/Cmissense variantpathogenic
rs206532763820:43,249,764G/T—pathogenic
rs251616176020:43,249,767G/C—uncertain significance
rs14661418420:43,249,770A/C—likely benign

Showing 100 of 513 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.