Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_007315.4:c.1799T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613796.2.2 | Saudi Arabia | Recurrent mycobacterial infections; Death in infancy | Female | Yes | Yes | First cousin of 613796.2.1 |
| 613796.2.3 | Saudi Arabia | Recurrent mycobacterial infections; Death in infancy | Female | Yes | Yes | First cousin of 613796.2.1, Twin sister of 613796.2.2 |
| 613796.2.4 | Saudi Arabia | Male | Father of 613796.2.1 | |||
| 613796.2.5 | Saudi Arabia | Female | Mother of 613796.2.1 |