Q21* (p.Gln21Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
Q21* (p.Gln21Ter) in CEP290 (Centrosomal protein of 290 kDa) is a protein-truncating change. The record also includes structural context.
Q21* (p.Gln21Ter) variant details
- p.Gln21Ter
- Ensembl rs2040640355
- Stop Gained
- Structural context available