S2372C (p.Ser2372Cys) variant of PKD1 (Polycystin-1)
S2372C (p.Ser2372Cys) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Polycystic kidney disease, adult type. The record also includes published literature and structural context.
S2372C (p.Ser2372Cys) variant details
- p.Ser2372Cys
- rs2544784984
- ClinGen CA394372021
- ClinVar RCV003990881
- Pathogenic/Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Polycystic kidney disease, adult type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)