Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000527.5:c.1477_1479delinsAGAGACA | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 143890.45.2 | Tunisia | Obesity; Peripheral arterial stenosis | Male | Yes | No | Married to first cousin 143890.45.1 |
| 143890.45.3 | Tunisia | Hypercholesterolemia; Tuberous xanthoma | Female | Yes | No | Daughter of 143890.45.1 |