Female
Yes
No
| 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 |
|---|---|---|---|---|---|---|
| 603813.3.1 | Lebanon | Hypercholesterolemia; Xanthomatosis; Coronary artery atherosclerosis | Female | Yes | No | Turkish patient with Lebanese antecedents |
| 603813.3.3 | Lebanon | Hypercholesterolemia; Xanthomatosis | Male | Yes | No | Cousin of of 603813.3.1 |
| 603813.3.4 | Lebanon | Female | Yes | No | Mother of of 603813.3.1 | |
| 603813.3.5 | Lebanon | Male | Yes | No | Father of of 603813.3.1 |