F70G (p.Phe70Gly) variant of RPE65 (Retinoid isomerohydrolase)
F70G (p.Phe70Gly) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available record places it in the context of not provided. The record also includes structural context.
F70G (p.Phe70Gly) variant details
- p.Phe70Gly
- rs281865287
- ClinGen CA226524
- ClinVar RCV000085180
- Ensembl rs281865287
- not provided
- Missense
- ClinVar: not provided (not provided)
- UniProt: Not provided (in LCA2 and RP20)
- Structural context available