A112G (p.Ala112Gly) variant of PKD1 (Polycystin-1)
A112G (p.Ala112Gly) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
A112G (p.Ala112Gly) variant details
- p.Ala112Gly
- rs1261496619
- ClinGen CA394395898
- ClinVar RCV003319664
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available