Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000527.4:c.2027del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 143890.34.1 | Saudi Arabia | Increased LDL cholesterol concentration | Female | Yes | Proband | |
| 143890.34.3 | Saudi Arabia | Hypercholesterolemia | Male | Yes | Father of 143890.34.1 | |
| 143890.34.4 | Saudi Arabia | Hypercholesterolemia | Female | Yes | Mother of 143890.34.1 |