Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_012275.2:c.338C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614204.1.2 | Lebanon | Erythema ; Pustule ; Recurrent fever ; Neutrophilia ; Leukocytosis ; Elevated circulating C-reactive protein concentration | Female | Yes | Yes | Sister of 614204.1.1 |