C2373Y (p.Cys2373Tyr) variant of PKD1 (Polycystin-1)
C2373Y (p.Cys2373Tyr) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polycystic kidney disease, adult type. The record also includes published literature and structural context.
C2373Y (p.Cys2373Tyr) variant details
- p.Cys2373Tyr
- rs2544784938
- ClinGen CA394372012
- ClinVar RCV003902318
- ClinVar RCV005015093
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type)
- EBI: Pathogenic (in PKD1)
- UniProt: Pathogenic (in PKD1)
- Structural context available
- Cited in: Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. (PMID 12842373)
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)