UROS, uroporphyrinogen III synthase, 7390

N. diseases: 58; N. variants: 25
Disease: Disorders of Porphyrin Metabolism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908015
rs121908015
Entrez Id: 7390
Gene Symbol: UROS
UROS
CUI: C0032708
Disease:
Disorders of Porphyrin Metabolism 		0.010 GeneticVariation BEFREE Next-generation sequencing multigene panel testing for porphyria demonstrated a homozygous c.10C>T (p.L4F) mutation in the UROS gene. 30706587 2019