Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000128.3:c.1557G>C | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
612416.3.1 | Lebanon | Prolonged partial thromboplastin time; Post-partum hemorrhage; Reduced factor XI activity | Female | Yes | No | Proband |
612416.3.2 | Lebanon | Reduced factor XI activity | Male | Yes | Father of 612416.3.1 | |
612416.3.4 | Lebanon | Reduced factor XI activity | Unknown | Yes | Sibling of 612416.3.1 | |
612416.3.5 | Lebanon | Reduced factor XI activity | Unknown | Yes | Sibling of 612416.3.1 | |
612416.3.6 | Lebanon | Reduced factor XI activity | Unknown | Yes | Sibling of 612416.3.1 |