K136M (p.Lys136Met) variant of CEP290 (Centrosomal protein of 290 kDa)
K136M (p.Lys136Met) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The record also includes structural context.
K136M (p.Lys136Met) variant details
- p.Lys136Met
- Ensembl rs2138213876
- Missense
- Structural context available