rs121908014

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

▶

ClinVar annotation

Pathogenic★☆☆☆
4 submitters9 publications

Cutaneous porphyria (CEP); UROS-related disorder

View on ClinVar →

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]

View all UROS variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…