rs121908012

This is a variant in the UROS gene that changes a cysteine to an arginine.

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ClinVar annotation

Pathogenic★★★☆
11 submitters24 publications

Cutaneous porphyria (CEP); UROS-related disorder

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About 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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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