D59Y (p.Asp59Tyr) variant of UMOD (Uromodulin)
D59Y (p.Asp59Tyr) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial juvenile hyperuricemic nephropathy type 1. The record also includes published literature and structural context.
D59Y (p.Asp59Tyr) variant details
- p.Asp59Tyr
- rs2507391033
- ClinGen CA394987722
- ClinVar RCV003153109
- Conflicting interpretations
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Likely pathogenic (in ADTKD1)
- UniProt: Likely pathogenic (in ADTKD1)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)