266200.1.1

Country

Lebanon

HPO Terms

Jaundice; Hepatosplenomegaly; Reduced red cell pyruvate kinase level
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000298.5:c.1151C>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
266200.1.2LebanonFemaleMother of 266200.1.1
266200.1.3LebanonMaleFather of 266200.1.1
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