C317Y (p.Cys317Tyr) variant of UMOD (Uromodulin)
C317Y (p.Cys317Tyr) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Familial juvenile hyperuricemic nephropathy type 1. The record also includes published literature and structural context.
C317Y (p.Cys317Tyr) variant details
- p.Cys317Tyr
- UniProt VAR 025962
- Pathogenic/Likely pathogenic
- not provided; Familial juvenile hyperuricemic nephropathy type 1
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Structural context available
- Cited in: Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. (PMID 14570709)
- Cited in: Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic… (PMID 12471200)