Female
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 |
238600.2.2 | Lebanon | Hypertriglyceridemia | Male | No | Yes | Father of 238600.2.1 |