E9Q (p.Glu9Gln) variant of CEP290 (Centrosomal protein of 290 kDa)
E9Q (p.Glu9Gln) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The record also includes structural context.
E9Q (p.Glu9Gln) variant details
- p.Glu9Gln
- Ensembl rs2138306475
- Missense
- Structural context available