Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000237.3:c.602A>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 238600.1.1 | Lebanon | Episodic abdominal pain; Hypertriglyceridemia; Recurrent pancreatitis; | Male | No | Yes | Proband from family 'LHTGa' in the publication |
| 238600.1.2 | Lebanon | Hypertriglyceridemia | Male | No | Yes | Father of 238600.1.1 |
| 238600.1.3 | Lebanon | Hypertriglyceridemia | Female | No | Yes | Mother of 238600.1.1 |
| 238600.1.4 | Lebanon | Hypertriglyceridemia | Male | Yes | Yes | Brother of 238600.1.1 |
| 238600.1.6 | Lebanon | Hypertriglyceridemia | Female | Yes | Yes | Sister of 238600.1.1 |
| 238600.1.7 | Lebanon | Hypertriglyceridemia | Male | No | Yes | Paternal uncle of 238600.1.1 |
| 238600.1.8 | Lebanon | Hypertriglyceridemia | Female | No | Yes | Paternal grandmother of 238600.1.1 |