Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000131.4:c.291+1G>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 227500.1.1 | Lebanon | Abnormal bleeding ; Death in infancy | Female | Yes | Yes | Also related to the families of 227500.2.1 and 227500.3.1 |
| 227500.1.3 | Lebanon | Female | Yes | Yes | Unaffected sister of 227500.1.1 | |
| 227500.1.4 | Lebanon | Female | Yes | Yes | Unaffected sister of 227500.1.1 | |
| 227500.1.5 | Lebanon | Male | Yes | Yes | Unaffected father of 227500.1.1 | |
| 227500.1.6 | Lebanon | Female | Yes | No | Unaffected mother of 227500.1.1 |