C73* (p.Cys73Ter) variant of SPTB (Spectrin beta chain, erythrocytic)
C73* (p.Cys73Ter) in SPTB (Spectrin beta chain, erythrocytic) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
C73* (p.Cys73Ter) variant details
- p.Cys73Ter
- rs2503226970
- ClinGen CA390036070
- ClinVar RCV002819996
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic