603813.4.1

Country

Lebanon

HPO Terms

Hypercholesterolemia; Xanthomatosis;
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_015627.2:c.89-1G>C2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
603813.4.2Lebanon;MaleYesBrother of 603813.4.1
603813.4.3Lebanon;FemaleMother of 603813.4.1
603813.4.4Lebanon;MaleFather of 603813.4.1
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