Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001319138.2:c.1285T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 207000.1.4 | Saudi Arabia | Male | Yes | Unaffected father of 200700.1.1 | ||
| 207000.1.5 | Saudi Arabia | Female | Yes | Unaffected mother of 200700.1.1 |