612416.3.1

Country

Lebanon

HPO Terms

Prolonged partial thromboplastin time; Post-partum hemorrhage; Reduced factor XI activity
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Sex

Female

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000128.3:c.1557G>C2

Remarks

Proband

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
612416.3.2LebanonReduced factor XI activityMaleYesFather of 612416.3.1
612416.3.3LebanonReduced factor XI activityFemaleYesMother of 612416.3.1
612416.3.4LebanonReduced factor XI activityUnknownYesSibling 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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