A6D (p.Ala6Asp) variant of HBA1 (Hemoglobin subunit alpha)
A6D (p.Ala6Asp) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes published literature and structural context.
A6D (p.Ala6Asp) variant details
- p.Ala6Asp
- Ensembl rs281864803
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Benign (in J-Toronto)
- UniProt: Benign (in J-Toronto)
- Structural context available
- Cited in: A new haemoglobin, J Toronto (alpha-5 alanine to aspartic acid). (PMID 5870555)