Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006785.3:c.266G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615468.1.1 | Lebanon | Recurrent pneumonia; Bronchiectasis; Esophagitis; Gastritis; Respiratory failure; Death in adolescence; | Female | Yes | Yes | |
| 615468.1.3 | Lebanon | Female | Yes | Sibling of 615468.1.1 | ||
| 615468.1.4 | Lebanon | Female | Yes | Mother of 615468.1.1 | ||
| 615468.1.5 | Lebanon | Male | Yes | Father of 615468.1.1 |