Q64* (p.Gln64Ter) variant of RHO (Rhodopsin)
Q64* (p.Gln64Ter) in RHO (Rhodopsin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q64* (p.Gln64Ter) variant details
- p.Gln64Ter
- rs2084757596
- ClinGen CA354496130
- ClinVar RCV001241342
- Ensembl rs2084757596
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available