Q158* (p.Gln158Ter) variant of SPTB (Spectrin beta chain, erythrocytic)
Q158* (p.Gln158Ter) in SPTB (Spectrin beta chain, erythrocytic) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
Q158* (p.Gln158Ter) variant details
- p.Gln158Ter
- rs2503219666
- ClinGen CA390034243
- ClinVar RCV002291038
- ClinVar RCV003130693
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic