143890.22.04

Country

Arab

HPO Terms

Xanthelasma; Hypercholesterolemia
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Sex

Male

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000527.4:c.1706-2A>T2

Remarks

Son of 143890.22.01

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
143890.22.01ArabPremature coronary artery atherosclerosis; Hypertension; HypercholesterolemiaMaleYesProband
143890.22.02ArabHypercholesterolemiaFemaleYesWife of 143890.22.01
143890.22.03ArabHypercholesterolemiaFemaleYesDaughter of 143890.22.01
143890.22.05ArabXanthelasma; HypercholesterolemiaMaleYesSon of 143890.22.01
143890.22.06ArabAtherosclerosisMaleYesSon of 143890.22.01
143890.22.07ArabAtherosclerosisMaleYesSon of 143890.22.01
143890.22.08ArabAtherosclerosisMaleYesSon of 143890.22.01
143890.22.09ArabHypercholesterolemiaMaleYesSon of 143890.22.01
143890.22.10ArabAtherosclerosisFemaleYesDaughter of 143890.22.01
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