ANGPTL3 Chromosome 1
Angiopoietin like 3
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What This Gene Does
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]
Gene Info
Gene Group
"Receptor ligands|Fibrinogen C domain containing|Angiopoietin like family"
Locus Type
gene with protein product
Location
1p31.3
Ensembl
ENSG00000132855
Associated Conditions (2)
Familial hypobetalipoproteinemia 2
Inborn genetic diseases
Key Variants
RS199555921
Conflicting classifications of pathogenicity
Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2
Health Risk
RS200949988
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372222044
Conflicting classifications of pathogenicity
Familial hypobetalipoproteinemia 2, Inborn genetic diseases, Familial hypobetalipoproteinemia 2
Health Risk
RS191293319
Likely pathogenic
Health Risk
RS200785483
Pathogenic
Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2
Health Risk
RS267606655
Pathogenic
Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2
Health Risk
RS398122985
Pathogenic
Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2
Health Risk
RS398122986
Pathogenic
Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2
Health Risk
RS398122987
Pathogenic
Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2
Health Risk
RS398122989
Pathogenic
Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2
Health Risk
RS577189349
Pathogenic
Health Risk
RS752195182
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199555921 | Health Risk | Conflicting classifications of pathogenicity | Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2 |
| RS200949988 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372222044 | Health Risk | Conflicting classifications of pathogenicity | Familial hypobetalipoproteinemia 2, Inborn genetic diseases, Familial hypobetalipoproteinemia 2 |
| RS191293319 | Health Risk | Likely pathogenic | — |
| RS200785483 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2 |
| RS267606655 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2 |
| RS398122985 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2 |
| RS398122986 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2 |
| RS398122987 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2 |
| RS398122989 | Health Risk | Pathogenic | Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2 |
| RS577189349 | Health Risk | Pathogenic | — |
| RS752195182 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |