D67G (p.Asp67Gly) variant of UMOD (Uromodulin)
D67G (p.Asp67Gly) 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; UMOD-related disorder. The record also includes published literature and structural context.
D67G (p.Asp67Gly) variant details
- p.Asp67Gly
- rs2507390910
- ClinGen CA394987467
- ClinVar RCV004528699
- ClinVar RCV005012927
- Conflicting interpretations
- Familial juvenile hyperuricemic nephropathy type 1; UMOD-related disorder
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Familial juvenile hyperuricemic nephropathy type 1; UMOD-related)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)