C44* (p.Cys44Ter) variant of PDE6B (P35913)
C44* (p.Cys44Ter) in PDE6B (P35913) is a protein-truncating change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
C44* (p.Cys44Ter) variant details
- p.Cys44Ter
- 1000Genomes rs199974771
- ExAC rs199974771
- TOPMed rs199974771
- gnomAD rs199974771
- Benign
- Stop Gained
- EBI: Benign
- UniProt: Benign
- Structural context available