R32D (p.Arg32Asp) variant of HBA1 (Hemoglobin subunit alpha)
R32D (p.Arg32Asp) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in Prato. The record also includes published literature and structural context.
R32D (p.Arg32Asp) variant details
- p.Arg32Asp
- rs1057519637
- ClinGen CA16602267
- ClinVar RCV000417216
- ClinVar RCV000985731
- Pathogenic
- in Prato
- Missense
- EBI: Pathogenic (in Prato)
- UniProt: Pathogenic (in Prato)
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: Alpha-Thalassemia. (PMID 20301608)