Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001033855.3:c.265A>G | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
602450.1.2 | Lebanon | Parent of child with T-B-NK+ SCID. Affected child did not carry the mutation detected in this parent |