Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001553.3:c.830-1G>A | 34 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614224.G.1 | Saudi Arabia | Retinal hemorrhage; Retinal arterial macroaneurysms; Abnormal heart valve morphology | Two siblings from an Emirati family | |||
| 614224.G.3 | Saudi Arabia | Retinal arterial macroaneurysms | Yes | Yes | Five patients (1 male; 4 females) from 'family 004' in the publication. Pseudodominant inheritance is noted in this family. | |
| 614224.G.4 | Saudi Arabia | Male | One out of 300 controls. This individual is likely a carrier as he had the c.830-1G>A IGFBP7 mutation on the same disease haplotype as the patients from the same publication. |