143890.43.2

Country

Syria

HPO Terms

Hypercholesterolemia; Tendon xanthomatosis
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Sex

Unknown

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000527.4:c.1999T>C2

Remarks

Belongs to the same consanguineous family as 143890.43.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
143890.43.1SyriaHypercholesterolemia; Tendon xanthomatosisUnknownYesYes
143890.43.3SyriaHypercholesterolemia; Tendon xanthomatosisUnknownYesYesBelongs to the same consanguineous family as 143890.43.1
143890.43.4SyriaHypercholesterolemiaUnknownYesYesBelongs to the same consanguineous family as 143890.43.1
143890.43.5SyriaHypercholesterolemiaUnknownYesYesBelongs to the same consanguineous family as 143890.43.1
143890.43.6SyriaHypercholesterolemiaUnknownYesYesBelongs to the same consanguineous family as 143890.43.1
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