UROS Chromosome 10
Uroporphyrinogen III synthase
Upload your DNA to see your personal genotypes for variants in UROS.
What This Gene Does
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]
Associated Conditions (2)
Cutaneous porphyria
UROS-related disorder
Key Variants
RS121908014
Conflicting classifications of pathogenicity
Cutaneous porphyria, UROS-related disorder, Cutaneous porphyria
Health Risk
RS121908016
Conflicting classifications of pathogenicity
Cutaneous porphyria, Cutaneous porphyria
Health Risk
RS17153575
Conflicting classifications of pathogenicity
Cutaneous porphyria, Cutaneous porphyria
Health Risk
RS17173752
Conflicting classifications of pathogenicity
Cutaneous porphyria, Cutaneous porphyria
Health Risk
RS17425877
Conflicting classifications of pathogenicity
Cutaneous porphyria, Cutaneous porphyria
Health Risk
RS397515527
Likely pathogenic
Cutaneous porphyria, Cutaneous porphyria
Health Risk
RS750180293
Likely pathogenic
Cutaneous porphyria, Cutaneous porphyria
Health Risk
RS773301339
Likely pathogenic
Cutaneous porphyria, Cutaneous porphyria
Health Risk
RS121908012
Pathogenic
Cutaneous porphyria, UROS-related disorder, Cutaneous porphyria
Health Risk
RS121908013
Pathogenic
Cutaneous porphyria, Cutaneous porphyria
Health Risk
RS121908015
Pathogenic
Cutaneous porphyria, UROS-related disorder, Cutaneous porphyria
Health Risk
RS121908017
Pathogenic
Cutaneous porphyria, Cutaneous porphyria, Cutaneous porphyria
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121908014 | Health Risk | Conflicting classifications of pathogenicity | Cutaneous porphyria, UROS-related disorder, Cutaneous porphyria |
| RS121908016 | Health Risk | Conflicting classifications of pathogenicity | Cutaneous porphyria, Cutaneous porphyria |
| RS17153575 | Health Risk | Conflicting classifications of pathogenicity | Cutaneous porphyria, Cutaneous porphyria |
| RS17173752 | Health Risk | Conflicting classifications of pathogenicity | Cutaneous porphyria, Cutaneous porphyria |
| RS17425877 | Health Risk | Conflicting classifications of pathogenicity | Cutaneous porphyria, Cutaneous porphyria |
| RS397515527 | Health Risk | Likely pathogenic | Cutaneous porphyria, Cutaneous porphyria |
| RS750180293 | Health Risk | Likely pathogenic | Cutaneous porphyria, Cutaneous porphyria |
| RS773301339 | Health Risk | Likely pathogenic | Cutaneous porphyria, Cutaneous porphyria |
| RS121908012 | Health Risk | Pathogenic | Cutaneous porphyria, UROS-related disorder, Cutaneous porphyria |
| RS121908013 | Health Risk | Pathogenic | Cutaneous porphyria, Cutaneous porphyria |
| RS121908015 | Health Risk | Pathogenic | Cutaneous porphyria, UROS-related disorder, Cutaneous porphyria |
| RS121908017 | Health Risk | Pathogenic | Cutaneous porphyria, Cutaneous porphyria, Cutaneous porphyria |
| RS121908018 | Health Risk | Pathogenic | Cutaneous porphyria, Cutaneous porphyria |
| RS121908020 | Health Risk | Pathogenic | Cutaneous porphyria, Cutaneous porphyria |
| RS121908021 | Health Risk | Pathogenic | Cutaneous porphyria, Cutaneous porphyria |
| RS139388833 | Health Risk | Pathogenic | — |
| RS1554891988 | Health Risk | Pathogenic | Cutaneous porphyria, Cutaneous porphyria |
| RS1590007244 | Health Risk | Pathogenic | Cutaneous porphyria, Cutaneous porphyria |
| RS1850723875 | Health Risk | Pathogenic | — |
| RS2133825383 | Health Risk | Pathogenic | — |
| RS2133845071 | Health Risk | Pathogenic | — |
| RS2133926208 | Health Risk | Pathogenic | — |
| RS2133941618 | Health Risk | Pathogenic | — |
| RS28941774 | Health Risk | Pathogenic | Cutaneous porphyria, Cutaneous porphyria |
| RS28941775 | Health Risk | Pathogenic | Cutaneous porphyria, Cutaneous porphyria |
| RS397515349 | Health Risk | Pathogenic | Cutaneous porphyria, Cutaneous porphyria |
| RS397515350 | Health Risk | Pathogenic | Cutaneous porphyria, Cutaneous porphyria |
| RS397515351 | Health Risk | Pathogenic | Cutaneous porphyria, Cutaneous porphyria |
| RS777433697 | Health Risk | Pathogenic | — |
| RS796051859 | Health Risk | Pathogenic | Cutaneous porphyria, Cutaneous porphyria |
| RS373864821 | Health Risk | Pathogenic/Likely pathogenic | Cutaneous porphyria, UROS-related disorder, Cutaneous porphyria |