143890.43.G.1

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Country

Syria

HPO Terms

Hypercholesterolemia
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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>CNA
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Remarks

Group with unknown number of members carrying this mutation. Belong to the same consanguineous family as 143890.43.1

References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.