rs776912361
This variant is located in the ANGPTL3 gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitterAbout 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]
View all ANGPTL3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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