C83F (p.Cys83Phe) variant of UMOD (Uromodulin)
C83F (p.Cys83Phe) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial juvenile hyperuricemic nephropathy type 1. The record also includes published literature and structural context.
C83F (p.Cys83Phe) variant details
- p.Cys83Phe
- rs2507390595
- ClinVar RCV004584158
- Likely pathogenic
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- ClinVar: Likely pathogenic (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)