W63* (p.Trp63Ter) variant of SPTB (Spectrin beta chain, erythrocytic)
W63* (p.Trp63Ter) in SPTB (Spectrin beta chain, erythrocytic) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
W63* (p.Trp63Ter) variant details
- p.Trp63Ter
- rs2503227366
- ClinGen CA390036130
- ClinVar RCV002816415
- ClinVar RCV003989787
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic