Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_021798.3:c.602G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 605383.1.2 | Lebanon | Cholangitis; Hepatic fibrosis; Chronic hepatitis due to cryptosporidium infection | Female | Yes | Yes | Sister of 605383.1.1 |
| 605383.1.3 | Lebanon | Male | Yes | Brother of 605383.1.1 |