rs2493853482
This variant is located in the UROS gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout UROS
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]
View all UROS variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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