Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_007315.4:c.2086C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613796.7.1 | Palestine | Recurrent bacterial infections; Recurrent mycobacterial infections; Recurrent viral infections | Male | Yes | Yes | |
| 613796.7.2 | Palestine | Recurrent bacterial infections; Recurrent mycobacterial infections; Recurrent viral infections | Female | Yes | Yes | Sister of 613796.7.1 |
| 613796.7.3 | Palestine | Male | Father of 613796.7.1 |