K17M (p.Lys17Met) variant of HBA1 (Hemoglobin subunit alpha)
K17M (p.Lys17Met) 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 HARBIN. The record also includes published literature and structural context.
K17M (p.Lys17Met) variant details
- p.Lys17Met
- Ensembl rs281864812
- other
- HEMOGLOBIN HARBIN
- Missense
- ClinVar: other (HEMOGLOBIN HARBIN)
- EBI: Benign (in Harbin)
- UniProt: Benign (in Harbin)
- Structural context available
- Cited in: Hemoglobin Chongqing [alpha 2(NA2)Leu----Arg] and hemoglobin Harbin [alpha 16(A14)Lys----Met] found in China. (PMID 6526652)