R147G (p.Arg147Gly) variant of PAX6 (Paired box protein Pax-6)
R147G (p.Arg147Gly) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Aniridia 1. The record also includes population frequency data and structural context.
R147G (p.Arg147Gly) variant details
- p.Arg147Gly
- gnomAD rs1375589302
- Pathogenic
- Aniridia 1
- Missense
- ClinVar: Pathogenic (Aniridia 1)
- UniProt: Pathogenic
- Population evidence available
- Structural context available