rs28941775

This is a variant in the UROS gene that changes a threonine to an alanine.

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ClinVar annotation

Pathogenic

1 submitter

Cutaneous porphyria (CEP)

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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