143890.45.3

Country

Tunisia

HPO Terms

Hypercholesterolemia; Tuberous xanthoma
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Sex

Female

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000527.5:c.1477_1479delinsAGAGACA2

Remarks

Daughter of 143890.45.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
143890.45.1TunisiaObesityFemaleYesNo
143890.45.2TunisiaObesity; Peripheral arterial stenosisMaleYesNoMarried to first cousin 143890.45.1
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