Q56E (p.Gln56Glu) variant of SPTB (Spectrin beta chain, erythrocytic)
Q56E (p.Gln56Glu) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SPTB-related disorder.
Q56E (p.Gln56Glu) variant details
- p.Gln56Glu
- rs2503227588
- ClinGen CA390036198
- ClinVar RCV003416898
- Uncertain significance
- SPTB-related disorder
- Missense
- ClinVar: Uncertain significance (SPTB-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance