Male
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 |
613796.7.4 | Palestine | Female | Mother of 613796.7.1 |