F129S (p.Phe129Ser) variant of HBA1 (Hemoglobin subunit alpha)
F129S (p.Phe129Ser) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of alpha Thalassemia. The record also includes published literature and structural context.
F129S (p.Phe129Ser) variant details
- p.Phe129Ser
- rs604131
- ClinVar RCV005624646
- Likely pathogenic
- alpha Thalassemia
- Missense
- ClinVar: Likely pathogenic (alpha Thalassemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: Alpha-Thalassemia. (PMID 20301608)