Male
No
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 |
|---|---|---|---|---|---|---|
| 238600.2.1 | Lebanon | Episodic abdominal pain; Hypertriglyceridemia | Male | No | Yes | Proband from family 'LHTGb' in the publication |
| 238600.2.3 | Lebanon | Hypertriglyceridemia | Female | No | Yes | Mother of 238600.2.1 |