227500.4.5

Country

Lebanon
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Sex

Female

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000131.4:c.291+1G>C1

Remarks

Unaffected mother of 227500.4.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
227500.4.1LebanonAbnormal bleedingMaleYesYes
227500.4.2LebanonMaleYesYesUnaffected brother of 227500.4.1
227500.4.3LebanonMaleYesYesUnaffected brother of 227500.4.1
227500.4.4LebanonMaleYesNoUnaffected father of 227500.4.1
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