143890.44.13

Country

Tunisia
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000527.5:c.1477_1479delinsAGAGACA1

Remarks

Daughter of 143890.44.11

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
143890.44.01TunisiaDiabetes mellitus; Corneal arcus; Premature coronary artery atherosclerosisMaleYesNoThe variant was found to result in a milder phenotype, as patients in this family had a delayed onset of coronary artery disease and prolonged survival beyond the age of 30 in the absence of lipid lowering drugs.
143890.44.02TunisiaFemaleYesNoWife and first cousin of 143890.44.01
143890.44.03TunisiaFemaleYesNoFirst cousin of 143890.44.01. Married to First cousin 143890.44.04
143890.44.04TunisiaDiabetes mellitusMaleYesNoHusband and First cousin of 143890.44.03
143890.44.05TunisiaHypercholesterolemia; Tendon Xanthomatosis ; Tuberous xanthoma; Corneal arcus; Peripheral arterial stenosisFemaleYesYesDaughter of 143890.44.01
143890.44.06TunisiaHypercholesterolemia; Tendon xanthomatosis; Tuberous xanthoma; Corneal arcus; Premature coronary artery atherosclerosisMaleYesYesSon of 143890.44.01
143890.44.07TunisiaHypercholesterolemia; Tendon xanthomatosis ; Tuberous xanthoma; Premature coronary artery atherosclerosisFemaleYesYesDaughter of 143890.44.01
143890.44.08TunisiaHypercholesterolemia; Tendon xanthomatosis; Tuberous xanthoma; Corneal arcus; Peripheral arterial stenosisFemaleYesYesDaughter of 143890.44.03
143890.44.09TunisiaHypercholesterolemia; Tuberous xanthoma; Corneal arcus; Premature coronary artery atherosclerosisMaleYesYesSon of 143890.44.03
143890.44.10TunisiaHypercholesterolemia; Tuberous xanthoma; Corneal arcus;MaleYesYesSon of 143890.44.03
143890.44.11TunisiaMaleYesNoFirst cousin once removed of 143890.44.03. Married to first cousin 143890.44.12
143890.44.12TunisiaObesityFemaleYesNoFirst cousin once removed of 143890.44.03. Married to first cousin 143890.44.11
143890.44.14TunisiaHypercholesterolemia; Tuberous Xanthoma; Corneal arcusMaleYesYesSon of 143890.44.11
143890.44.15TunisiaHypercholesterolemia; Tuberous xanthoma; Tendon xanthomatosis; Corneal arcus; Premature coronary artery atherosclerosis; Peripheral arterial stenosisMaleYesYesSon of 143890.44.11
143890.44.16TunisiaFemaleYesYesDaughter of 143890.44.11
143890.44.17TunisiaIncreased LDL cholesterol concentrationFemaleYesYesDaughter of 143890.44.11
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