Q121* (p.Gln121Ter) variant of SPTB (Spectrin beta chain, erythrocytic)
Q121* (p.Gln121Ter) in SPTB (Spectrin beta chain, erythrocytic) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
Q121* (p.Gln121Ter) variant details
- p.Gln121Ter
- rs2503220523
- ClinGen CA390034997
- ClinVar RCV003842965
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic