Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000619.3:c.354_357del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 618963.1.2 | Lebanon | BCGosis; Hepatosplenomegaly; Anemia | Female | Yes | Yes | First degree cousin of 618963.1.1 |