G3818C (p.Gly3818Cys) variant of PKD1 (Polycystin-1)
G3818C (p.Gly3818Cys) 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.
G3818C (p.Gly3818Cys) variant details
- p.Gly3818Cys
- rs2151698069
- ClinGen CA394333218
- ClinVar RCV001845003
- ClinVar RCV002477881
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)
- Cited in: Spanish guidelines for the management of autosomal dominant polycystic kidney disease. (PMID 25165191)