Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000518.5:c.315+1G>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613985.10.1 | Iraq | Anemia; Decreased mean corpuscular volume | Male | Yes | Proband (patient #3444 in the publication); patient also has α-globin gene triplication anti-3.7 kb mutation. | |
| 613985.10.2 | Iraq | Hemolytic anemia; Persistence of hemoglobin F | Male | Yes | Son of Proband (patient #5829 in the publication). | |
| 613985.10.3 | Iraq | Anemia; Decreased mean corpuscular volume | Male | Yes | Brother of proband (patient #5825 in the publication); patient also has α-thalassemia type 2, 3.7 kb deletion. | |
| 613985.10.4 | Iraq | Anemia; Persistence of hemoglobin F | Female | Yes | Niece of proband (patient #5937 in the publication); patient also has α-thalassemia type 2, 3.7 kb deletion. |