Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000527.4:c.2447_2450dupAGAA | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 143890.21.1 | Saudi Arabia | Hypercholesterolemia | Male | Yes | Yes | |
| 143890.21.2 | Saudi Arabia | Hypercholesterolemia | Female | Yes | Yes | Sister of 143890.21.1 |
| 143890.21.4 | Saudi Arabia | Hypercholesterolemia | Female | Yes | Mother of 143890.21.1 |