D97G (p.Asp97Gly) variant of PKD1 (Polycystin-1)
D97G (p.Asp97Gly) 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.
D97G (p.Asp97Gly) variant details
- p.Asp97Gly
- rs2092684310
- ClinGen CA394396068
- ClinVar RCV001293852
- UniProt VAR 064380
- 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: Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). (PMID 21115670)
- Cited in: Mutational analysis within the 3' region of the PKD1 gene. (PMID 10200984)