Unknown
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017777.4:c.1066C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 249000.2.2 | Saudi Arabia | Male | Father of 249000.2.1 | |||
| 249000.2.3 | Saudi Arabia | Female | Mother of 249000.2.1 |