Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_006949.4:c.1727del | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
613101.4.2 | Lebanon | Abnormal natural killer cell physiology; Chronic diarrhea; Abnormal bleeding | Female | Yes | Yes | Sister of 613101.4.1 |