Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000405.5:c.164C>T |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 272750.3.G.1 | Saudi Arabia | Father, mother, 2 sisters and a brother of 272750.3.1 |