C51G (p.Cys51Gly) variant of PKD1 (Polycystin-1)
C51G (p.Cys51Gly) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Polycystic kidney disease, adult type. The record also includes published literature and structural context.
C51G (p.Cys51Gly) variant details
- p.Cys51Gly
- rs2151858256
- ClinGen CA394282413
- ClinVar RCV002267544
- ClinVar RCV005397354
- Uncertain significance
- not provided; Polycystic kidney disease, adult type
- Missense
- ClinVar: Uncertain significance (not provided; Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)