HBA1
Gene name: hemoglobin, alpha 1OMIM ID: 141800
Chromosome location: 16p13.3
Mutations
| Disease/Phenotype | Thalassemia, alpha 1 |
|---|---|
| Reference transcript | NM_000558.3 |
| DNA Change | c.358C>T |
| A.A. Change | p.Pro120Ser |
| Exon/Intron | exon 1 |
| Mutation Type | substitution |
| Reference | Harteveld CL, van Delft P, Plug R, Versteegh FG, Hagen B, van Rooijen I, Kok PJ, Wajcman H, Kister J, Giordano PC.Hb Groene Hart: a new Pro-->Ser amino acid substitution at position 119 of the alpha1-globin chain is associated with a mild alpha-thalassemia phenotype. Hemoglobin. 2002 Aug;26(3):255-60. |