N1870S (p.Asn1870Ser) variant of PKD1 (Polycystin-1)
N1870S (p.Asn1870Ser) 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.
N1870S (p.Asn1870Ser) variant details
- p.Asn1870Ser
- rs2544811132
- ClinGen CA394376184
- ClinVar RCV003911838
- ClinVar RCV005015097
- Pathogenic/Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- ClinVar: Pathogenic/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)