603813.1.1

Country

Lebanon

HPO Terms

Hypercholesterolemia; Xanthomatosis
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_015627.2:c.406C>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
603813.1.2LebanonHypercholesterolemia; XanthomatosisFemaleYesYesSibling of 603813.1.1
603813.1.3LebanonHypercholesterolemia; XanthomatosisMaleYesYesSibling of 603813.1.1
603813.1.4LebanonHypercholesterolemia; XanthomatosisFemaleYesYesSibling of 603813.1.1
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