R125G (p.Arg125Gly) variant of PAX6 (Paired box protein Pax-6)
R125G (p.Arg125Gly) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Aniridia 1; Irido-corneo-trabecular dysgenesis. The record also includes structural context.
R125G (p.Arg125Gly) variant details
- p.Arg125Gly
- cosmic curated COSV53795
- Uncertain significance
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- ClinVar: Uncertain significance (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- UniProt: Uncertain significance (in FVH1)
- Structural context available