Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000527.4:c.2027del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 143890.33.1 | Saudi Arabia | Hypercholesterolemia | Female | Yes | Proband | |
| 143890.33.2 | Saudi Arabia | Hypercholesterolemia | Male | Yes | Father of 143890.33.1 | |
| 143890.33.3 | Saudi Arabia | Hypercholesterolemia | Female | Yes | Mother of 143890.33.1 | |
| 143890.33.4 | Saudi Arabia | Increased LDL cholesterol concentration | Male | Yes | Brother of 143890.33.1 | |
| 143890.33.6 | Saudi Arabia | Increased LDL cholesterol concentration | Female | Yes | Sister of 143890.33.1 |