G19D (p.Gly19Asp) variant of HBA1 (Hemoglobin subunit alpha)
G19D (p.Gly19Asp) 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 AL-AIN ABU DHABI. The record also includes published literature and structural context.
G19D (p.Gly19Asp) variant details
- p.Gly19Asp
- Ensembl rs63750679
- other
- HEMOGLOBIN AL-AIN ABU DHABI
- Missense
- ClinVar: other (HEMOGLOBIN AL-AIN ABU DHABI)
- EBI: Benign (in Al-Ain Abu Dhabi)
- UniProt: Benign (in Al-Ain Abu Dhabi)
- Structural context available
- Cited in: HB Al-Ain Abu Dhabi [alpha 18(A16)Gly----Asp]: a new hemoglobin variant discovered in an Emiratee family. (PMID 1428941)