Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000218.2:c.773A>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 192500.3.02 | Saudi Arabia | Female | Yes | No | Mother of 192500.3.01 | |
| 192500.3.03 | Saudi Arabia | Female | Yes | No | Daughter of 192500.3.01 | |
| 192500.3.04 | Saudi Arabia | Male | Yes | No | Brother of 192500.3.01 | |
| 192500.3.05 | Saudi Arabia | Syncope; Prolonged QTc interval | Male | Yes | No | Brother of 192500.3.01 |
| 192500.3.06 | Saudi Arabia | Male | Yes | No | Brother of 192500.3.01 | |
| 192500.3.07 | Saudi Arabia | Male | Yes | No | Nephew of 192500.3.01 | |
| 192500.3.08 | Saudi Arabia | Male | Yes | No | Nephew of 192500.3.01 | |
| 192500.3.09 | Saudi Arabia | Male | Yes | No | Nephew of 192500.3.01 | |
| 192500.3.10 | Saudi Arabia | Male | Yes | No | Nephew of 192500.3.01 | |
| 192500.3.11 | Saudi Arabia | Male | Yes | No | Nephew of 192500.3.01 | |
| 192500.3.12 | Saudi Arabia | Male | Yes | No | Nephew of 192500.3.01 |