R3753G (p.Arg3753Gly) variant of PKD1 (Polycystin-1)
R3753G (p.Arg3753Gly) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Polycystic kidney disease, adult type. The record also includes published literature and structural context.
R3753G (p.Arg3753Gly) variant details
- p.Arg3753Gly
- rs1167476946
- ClinGen CA394336138
- ClinVar RCV002466940
- ClinVar RCV003984264
- Likely pathogenic
- not provided; Polycystic kidney disease, adult type
- Missense
- ClinVar: Likely pathogenic (not provided; Polycystic kidney disease, adult type)
- EBI: Likely pathogenic (in PKD1)
- UniProt: Likely pathogenic (in PKD1)
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)