Female
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 |
---|---|---|---|---|---|---|
605383.1.1 | Lebanon | Cholangitis; Hepatic fibrosis; Chronic hepatitis due to cryptosporidium infection | Male | Yes | Yes | |
605383.1.3 | Lebanon | Male | Yes | Brother of 605383.1.1 |