D3844H (p.Asp3844His) variant of PKD1 (Polycystin-1)
D3844H (p.Asp3844His) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant polycystic kidney disease. The record also includes published literature and structural context.
D3844H (p.Asp3844His) variant details
- p.Asp3844His
- rs2151697614
- ClinGen CA394332405
- ClinVar RCV001845002
- Ensembl rs2151697614
- Likely pathogenic
- Autosomal dominant polycystic kidney disease
- Missense
- ClinVar: Likely pathogenic (Autosomal dominant polycystic kidney disease)
- 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)