Unknown
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000527.4:c.1171G>A | 3 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 143890.G.5.2 | Lebanon | Increased LDL cholesterol concentration; Xanthomatosis | Unknown | Yes | Group of 5 patients |