rs398122989

This is a variant in the ANGPTL3 gene that changes a phenylalanine to an leucine.

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ClinVar annotation

Pathogenic

1 submitter1 publication

Familial hypobetalipoproteinemia 2

About ANGPTL3

This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metabolism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [provided by RefSeq, Aug 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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