W23* (p.Trp23Ter) variant of SPTB (Spectrin beta chain, erythrocytic)
W23* (p.Trp23Ter) in SPTB (Spectrin beta chain, erythrocytic) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic.
W23* (p.Trp23Ter) variant details
- p.Trp23Ter
- rs2503302459
- ClinGen CA390038346
- ClinVar RCV003489461
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic