Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000053.3:c.2495A>G | 2 | |||
| NM_000053.3:c.3419T>C | 2 | |||
| NM_000053.3:c.2855G>A | 2 | |||
| NM_000053.3:c.2817G>T | 2 | |||
| NM_000053.3:c.3009G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277900.31.1 | Lebanon | Elevated hepatic transaminase; Hepatomegaly; Chronic hepatitis ; | Female | Yes | No | Sibling of 277900.30.2 and 277900.30.3 |
| 277900.31.2 | Lebanon | Elevated hepatic transaminase; Cirrhosis ; ; | Male | Yes | No | Sibling of 277900.30.1 and 277900.30.3 |
| 277900.31.4 | Lebanon | Female | Mother of 277900.30.1, 277900.30.2 and 277900.30.3 | |||
| 277900.31.5 | Lebanon | Male | Father of 277900.30.1, 277900.30.2 and 277900.30.3 |