ARG1

arginase 1

Summary

Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Known Variants380 total

rsidPosition (GRCh37)AllelesClassClinVar
rs27816656:131,893,247A/Tdownstream gene variant—
rs27816666:131,893,559G/Tdownstream gene variant—
rs1416893596:131,894,098G/A—likely benign
rs1923531536:131,894,353A/G—uncertain significance
rs177884846:131,894,358T/C—benign
rs3707473146:131,894,402A/C—uncertain significance
rs15542493326:131,894,424T/C—pathogenic
rs7456249536:131,894,425G/A—pathogenic
rs24823103456:131,894,426A/G—uncertain significance
rs14514204936:131,894,427G/T—uncertain significance
rs1385844106:131,894,428C/T—likely benign
rs5583776426:131,894,429G/C—uncertain significance
rs24823104096:131,894,431C/G—likely benign
rs24823104306:131,894,436C/G—uncertain significance
rs15853911286:131,894,437C/G—likely benign
rs11909487676:131,894,438A/G—uncertain significance
rs9892047106:131,894,441A/C—uncertain significance
rs7761856096:131,894,444A/G—uncertain significance
rs1493106316:131,894,445T/A—pathogenic
rs24823105676:131,894,452T/C—likely benign
rs289414746:131,894,454T/Cmissense variantpathogenic
rs9392569196:131,894,464T/A—likely benign
rs15853912636:131,894,470A/C—likely benign
rs7532609696:131,894,473G/C—uncertain significance
rs13358262726:131,894,476A/G—likely benign
rs7611481016:131,894,478A/T—uncertain significance
rs1507662046:131,894,479G/A—benign
rs5877765396:131,894,480G/Asplice region variantpathogenic
rs12869404796:131,894,486A/G—likely benign
rs7791352016:131,894,491A/T—likely benign
rs14857248176:131,894,499T/C—likely benign
rs94930296:131,894,674G/A—likely benign
rs27816676:131,895,144C/T3 prime UTR variant—
rs735446206:131,895,518G/T——
rs27816686:131,897,278C/Tregulatory region variant—
rs737780206:131,897,510G/A—likely benign
rs15623539466:131,897,785T/A—uncertain significance
rs7622100896:131,897,786A/T—likely benign
rs7804871916:131,897,787T/C—likely benign
rs24823336806:131,897,795T/C—uncertain significance
rs15542500406:131,897,801A/C—likely pathogenic
rs7666622456:131,897,804C/T—uncertain significance
rs1048939446:131,897,806C/Tstop gainedpathogenic
rs1449948956:131,897,807G/A—conflicting classifications of pathogenicity
rs21145190686:131,897,808A/G—likely benign
rs17736275846:131,897,812G/T—uncertain significance
rs14006309766:131,897,814G/A—likely benign
rs21145191046:131,897,815G/C—uncertain significance
rs7559730046:131,897,820A/G—conflicting classifications of pathogenicity
rs9985131016:131,897,821G/A—uncertain significance
rs13269303896:131,897,825G/A—pathogenic
rs21145192046:131,897,826C/T—likely benign
rs24823342706:131,897,829T/C—likely benign
rs13736476676:131,897,832A/G—likely benign
rs17736300096:131,897,837T/G—uncertain significance
rs17736301656:131,897,838G/A—likely benign
rs21145193256:131,897,845G/T—uncertain significance
rs24823345066:131,897,848G/A—uncertain significance
rs24823345226:131,897,849G/A—uncertain significance
rs24823346096:131,897,856T/C—likely benign
rs24823346366:131,897,864T/C—uncertain significance
rs7487449506:131,897,869G/T—pathogenic
rs24823347766:131,897,873A/G—uncertain significance
rs15623541026:131,897,875G/C—uncertain significance
rs1137676586:131,897,876G/A—pathogenic
rs21145194806:131,897,886A/G—likely benign
rs104847666:131,899,986C/T—benign
rs563251166:131,900,144G/A—benign
rs557065106:131,900,145C/T—benign
rs7630706776:131,900,232C/G—likely benign
rs24823509346:131,900,237C/T—likely benign
rs10575218936:131,900,240T/C—likely benign
rs12014693866:131,900,242T/C—likely benign
rs13844383506:131,900,247T/A—likely benign
rs17737823066:131,900,250G/C—likely pathogenic
rs3724153686:131,900,255T/C—likely benign
rs17737826586:131,900,256G/A—uncertain significance
rs24823512286:131,900,261G/A—likely benign
rs17737831706:131,900,262A/T—pathogenic
rs3756557146:131,900,264G/A—likely benign
rs17737834306:131,900,267T/C—likely benign
rs14158733966:131,900,270T/C—likely benign
rs13207721276:131,900,273G/T—likely benign
rs1888880286:131,900,277C/T—likely benign
rs5351611576:131,900,279G/T—likely benign
rs24823515056:131,900,282C/T—likely benign
rs24823515376:131,900,288T/A—likely benign
rs14861187226:131,900,291C/T—likely benign
rs7533475476:131,900,297T/A—likely benign
rs21145304886:131,900,303C/T—likely benign
rs7568256236:131,900,307C/G—uncertain significance
rs21145305486:131,900,309C/G—likely benign
rs21145305846:131,900,318T/C—likely benign
rs15542505106:131,900,327T/G—uncertain significance
rs7455800416:131,900,330A/G—likely benign
rs7579593566:131,900,332G/C—uncertain significance
rs8672237876:131,900,338T/G—uncertain significance
rs12969166896:131,900,350G/A—conflicting classifications of pathogenicity
rs3693936796:131,900,351C/T—likely benign
rs5471221926:131,900,352G/A—uncertain significance

Showing 100 of 380 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.