R70* (p.Arg70Ter) variant of SPTB (Spectrin beta chain, erythrocytic)
R70* (p.Arg70Ter) in SPTB (Spectrin beta chain, erythrocytic) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
R70* (p.Arg70Ter) variant details
- p.Arg70Ter
- rs1566775577
- ClinGen CA390036090
- NCI-TCGA Cosmic COSV1044
- cosmic curated COSV10443
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic