143890.48.3

Country

Oman

HPO Terms

Hypercholesterolemia
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000527.4:c.272del2

Remarks

Sister of 143890.48.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
143890.48OmanHypercholesterolemiaUnknown
143890.48.1OmanCorneal arcus; Xanthelasma; Tendon xanthomatosis; Tuberous xanthoma; Hypercholesterolemia; Respiratory distress; Angina pectorisFemaleYesYesProband
143890.48.2OmanPremature coronary artery atherosclerosis; HypercholesterolemiaMaleYesFather of 143890.48.1
143890.48.4OmanHypercholesterolemiaFemaleYesYesSister of 143890.48.1
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