Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000131.4:c.291+1G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 227500.3.1 | Lebanon | Abnormal bleeding | Female | Yes | No | Also related to the families of 227500.1.1 and 227500.2.1 |
| 227500.3.3 | Lebanon | Female | Yes | No | Unaffected sister of 227500.3.1 | |
| 227500.3.4 | Lebanon | Male | Yes | Unaffected father of 227500.3.1 | ||
| 227500.3.5 | Lebanon | Female | Yes | No | Unaffected mother of 227500.3.1 |