Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000237.3:c.858T>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 238600.4.1 | Morocco | Acute pancreatitis | Female | No | Yes | Proband 2 from Family 2 in the publication, died at age 7 |
| 238600.4.2 | Morocco | Decreased circulating lipoprotein lipase concentration | Male | Yes | Father of 238600.4.1 | |
| 238600.4.3 | Morocco | Hypertriglyceridemia; Decreased HDL cholesterol concentration; Decreased circulating lipoprotein lipase concentration; | Female | Yes | Mother of 238600.4.1 | |
| 238600.4.5 | Morocco | Decreased circulating lipoprotein lipase concentration | Female | Yes | Yes | Sister of 238600.4.1 |