605067.1.1

Country

Lebanon

HPO Terms

Tricuspid atresia ; Transposition of the great arteries ; Atrial septal defect ; Hypoplastic aortic arch ; Pulmonary arterial hypertension
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Sex

Male

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_006162.4:c.197C>T1
NM_172390.2:c.2101A>C1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
605067.1.2LebanonMaleYesUnaffected father of 605067.1.1
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