D7N (p.Asp7Asn) variant of HBA1 (Hemoglobin subunit alpha)
D7N (p.Asp7Asn) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN DUNN. The record also includes published literature and structural context.
D7N (p.Asp7Asn) variant details
- p.Asp7Asn
- Ensembl rs281864806
- other
- HEMOGLOBIN DUNN
- Missense
- ClinVar: other (HEMOGLOBIN DUNN)
- EBI: Benign (in Dunn)
- UniProt: Benign (in Dunn)
- Structural context available
- Cited in: Increased oxygen affinity with normal heterotropic effects in hemoglobin Loire [alpha 88(F9)Ala----Ser]. (PMID 3142772)
- Cited in: Hemoglobin Dunn: alpha 6 (A4) aspartic acid replaced by asparagine. (PMID 478975)