S33C (p.Ser33Cys) variant of CEP290 (Centrosomal protein of 290 kDa)
S33C (p.Ser33Cys) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The record also includes structural context.
S33C (p.Ser33Cys) variant details
- p.Ser33Cys
- ExAC rs751721358
- TOPMed rs751721358
- gnomAD rs751721358
- Missense
- Structural context available