F177C (p.Phe177Cys) variant of IDUA (Alpha-L-iduronidase)
F177C (p.Phe177Cys) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hurler syndrome. The record also includes published literature and structural context.
F177C (p.Phe177Cys) variant details
- p.Phe177Cys
- rs2534082851
- ClinGen CA355961707
- ClinVar RCV004437809
- Pathogenic
- Hurler syndrome
- Missense
- ClinVar: Pathogenic (Hurler syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)