rs116147257

This variant is located in the APOL3 gene.

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ClinVar annotation

Benign★★★☆

2 submitters2 publications

About APOL3

This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 22. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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