Unknown
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000527.4:c.1999T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 143890.43.1 | Syria | Hypercholesterolemia; Tendon xanthomatosis | Unknown | Yes | Yes | |
| 143890.43.3 | Syria | Hypercholesterolemia; Tendon xanthomatosis | Unknown | Yes | Yes | Belongs to the same consanguineous family as 143890.43.1 |
| 143890.43.4 | Syria | Hypercholesterolemia | Unknown | Yes | Yes | Belongs to the same consanguineous family as 143890.43.1 |
| 143890.43.5 | Syria | Hypercholesterolemia | Unknown | Yes | Yes | Belongs to the same consanguineous family as 143890.43.1 |
| 143890.43.6 | Syria | Hypercholesterolemia | Unknown | Yes | Yes | Belongs to the same consanguineous family as 143890.43.1 |