Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001139.3:c.944T>C | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
242100.2.2 | United Arab Emirates | Male | Unaffected father of 242100.2.1 | |||
242100.2.3 | United Arab Emirates | Female | Unaffected mother of 242100.2.1 |