612416.3.4

Country

Lebanon

HPO Terms

Reduced factor XI activity
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Sex

Unknown

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000128.3:c.1557G>C1

Remarks

Sibling of 612416.3.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
612416.3.1LebanonProlonged partial thromboplastin time; Post-partum hemorrhage; Reduced factor XI activityFemaleYesNoProband
612416.3.2LebanonReduced factor XI activityMaleYesFather of 612416.3.1
612416.3.3LebanonReduced factor XI activityFemaleYesMother of 612416.3.1
612416.3.5LebanonReduced factor XI activityUnknownYesSibling of 612416.3.1
612416.3.6LebanonReduced factor XI activityUnknownYesSibling of 612416.3.1
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