Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000218.2:c.1700T>C | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 220400.5.2 | Saudi Arabia | Male | No | No | Father of 220400.5.1 | |
| 220400.5.3 | Saudi Arabia | Female | No | No | Mother of 220400.5.1 |