A49V (p.Ala49Val) variant of SPTB (Spectrin beta chain, erythrocytic)
A49V (p.Ala49Val) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary spherocytosis type 2.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- rs2503301874
- ClinGen CA390038167
- ClinVar RCV002291032
- Likely pathogenic
- Hereditary spherocytosis type 2
- Missense
- ClinVar: Likely pathogenic (Hereditary spherocytosis type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic