Female
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000218.2:c.820_830del | 1 | NA | ||
| NM_000218.2:c.1251+1G>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 220400.1.2 | Saudi Arabia | Prolonged QTc interval | Female | No | No | Mother of 220400.1.1 |
| 220400.1.3 | Saudi Arabia | Male | No | No | Brother of 220400.1.1 | |
| 220400.1.4 | Saudi Arabia | Prolonged QTc interval | Female | No | No | Sister of 220400.1.1 |