C92W (p.Cys92Trp) variant of UMOD (Uromodulin)
C92W (p.Cys92Trp) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial juvenile hyperuricemic nephropathy type 1. The record also includes published literature and structural context.
C92W (p.Cys92Trp) variant details
- p.Cys92Trp
- rs2507390389
- ClinGen CA394986854
- ClinVar RCV003151685
- ClinVar RCV003236598
- Pathogenic
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- ClinVar: Pathogenic (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)