UROS

uroporphyrinogen III synthase

Summary

The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]

Known Variants117 total

rsidPosition (GRCh37)AllelesClassClinVar
rs56962815410:127,477,259C/T—uncertain significance
rs88604681410:127,477,338T/C—uncertain significance
rs18230329310:127,477,341C/T—likely benign
rs88756814210:127,477,345A/C—uncertain significance
rs143619129610:127,477,381A/G—uncertain significance
rs37213251110:127,477,400C/A—benign
rs76000318910:127,477,413T/C—uncertain significance
rs14283476710:127,477,484G/C—likely benign
rs12190802110:127,477,492G/Tmissense variantpathogenic
rs19992512110:127,477,495G/A—likely benign
rs14607071210:127,477,497G/A—benign
rs77743369710:127,477,525A/G—pathogenic
rs14394759610:127,477,535C/T—likely benign
rs75701004710:127,477,542C/T—likely benign
rs105550552310:127,477,543G/A—uncertain significance
rs78083751210:127,477,544C/T—uncertain significance
rs74818055910:127,477,551C/T—likely benign
rs12190801410:127,477,552G/Amissense variantpathogenic
rs36997224110:127,477,557G/A—likely benign
rs12190802010:127,477,562C/Tmissense variantpathogenic
rs14687905410:127,477,572A/G—benign
rs37558602710:127,477,577A/G—likely benign
rs75018029310:127,477,605A/C—likely pathogenic
rs75584205310:127,483,460C/T—uncertain significance
rs13938883310:127,483,475A/G—pathogenic
rs20153956810:127,483,503T/G—likely benign
rs12190801710:127,483,547C/Tmissense variantpathogenic
rs181062890910:127,483,552G/A—likely benign
rs158993079110:127,483,553G/T—likely benign
rs99923109310:127,483,555G/C—likely benign
rs374017910:127,483,573G/A—benign
rs228195610:127,484,543G/C—benign
rs228195510:127,484,617C/G—benign
rs228195410:127,484,653G/A—benign
rs37646064810:127,484,662C/T—likely benign
rs74868704210:127,484,663G/A—likely benign
rs77636682110:127,484,674G/C—uncertain significance
rs249385324910:127,484,677G/T—likely benign
rs75919261910:127,484,678G/A—likely benign
rs249385343210:127,484,684G/A—likely benign
rs249385348210:127,484,690G/A—likely benign
rs1717375210:127,484,721A/G—conflicting classifications of pathogenicity
rs75638276610:127,484,732C/T—likely benign
rs14353605810:127,484,740T/C—uncertain significance
rs37607263710:127,484,777G/C—benign
rs228195310:127,484,957G/T—benign
rs1090143610:127,486,429G/A—benign
rs1742587710:127,486,620A/T—conflicting classifications of pathogenicity
rs14906714510:127,486,647C/T—benign
rs78158911010:127,486,685G/A—uncertain significance
rs213384493510:127,486,693A/C—uncertain significance
rs249388671210:127,486,696G/T—uncertain significance
rs213384507110:127,486,716T/G—pathogenic
rs1090143710:127,486,885C/T—benign
rs37236201210:127,491,600G/C—likely benign
rs1051014910:127,495,807A/C—benign
rs202751510:127,495,832T/C—benign
rs14112208110:127,495,993T/C—uncertain significance
rs249403010310:127,496,028T/C—likely benign
rs11792609010:127,496,038T/A—likely benign
rs75441435510:127,496,039C/G—uncertain significance
rs36956104210:127,496,049T/G—uncertain significance
rs75271386010:127,496,061A/G—likely benign
rs132457780210:127,496,065C/T—likely benign
rs1090144210:127,496,359C/T—benign
rs1090144410:127,500,718C/G—benign
rs39751552810:127,500,791G/Amissense variantuncertain significance
rs213392620810:127,500,806A/G—pathogenic
rs76360604210:127,500,851T/G—uncertain significance
rs249414127210:127,503,591A/C—likely benign
rs12190801610:127,503,603C/Amissense variantpathogenic
rs12190801810:127,503,604T/Amissense variantpathogenic
rs213394161810:127,503,624C/A—pathogenic
rs249414220410:127,503,625C/G—uncertain significance
rs12190801210:127,503,630A/Gmissense variantpathogenic
rs2894177410:127,503,650G/Amissense variantpathogenic
rs2894177510:127,503,663T/Cmissense variantpathogenic
rs20032271710:127,503,678C/T—uncertain significance
rs12190801310:127,503,689G/Amissense variantpathogenic
rs19147719110:127,503,702G/A—likely benign
rs37593979310:127,503,703C/A—likely benign
rs249414448810:127,503,709A/G—likely benign
rs189135810:127,503,934G/C—benign
rs1075153410:127,503,943G/A—benign
rs236604410:127,504,660A/G—benign
rs39751552710:127,504,754A/Gmissense variantlikely pathogenic
rs77381859510:127,504,762G/C—uncertain significance
rs213394760610:127,504,766G/C—uncertain significance
rs20085813910:127,504,787A/C—uncertain significance
rs75363846710:127,504,800A/G—likely benign
rs105004780510:127,504,829C/T—uncertain significance
rs77645857310:127,504,988G/A—likely benign
rs1715357510:127,504,998C/T—conflicting classifications of pathogenicity
rs37386482110:127,505,005C/Tsplice region variantpathogenic
rs159000724410:127,505,013T/C—pathogenic
rs75632846710:127,505,015C/T—likely benign
rs76654024510:127,505,016G/A—uncertain significance
rs129878460610:127,505,019T/C—uncertain significance
rs15005927910:127,505,042C/T—likely benign
rs55892939510:127,505,047C/T—likely benign

Showing 100 of 117 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.