Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_015627.2:c.406C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 603813.1.1 | Lebanon | Hypercholesterolemia; Xanthomatosis | Male | Yes | Yes | |
| 603813.1.2 | Lebanon | Hypercholesterolemia; Xanthomatosis | Female | Yes | Yes | Sibling of 603813.1.1 |
| 603813.1.3 | Lebanon | Hypercholesterolemia; Xanthomatosis | Male | Yes | Yes | Sibling of 603813.1.1 |