Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000377.3:c.134C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 313900.2.2 | Lebanon | Thrombocytopenia | Male | Yes | No | Sibling of 313900.2.1 and cousin to 313900.2.3 and 313900.2.4 Lebanese/Syrian family |
| 313900.2.3 | Lebanon | Abnormal platelet count; Epistaxis; Purpura; Eczema | Male | Yes | No | Sibling of 313900.2.4 and cousin to 313900.2.1 and 313900.2.2 Lebanese/Syrian family |
| 313900.2.4 | Lebanon | Thrombocytopenia | Male | Yes | No | Sibling of 313900.2.3 and cousin to 313900.2.1 and 313900.2.2 Lebanese/Syrian family |