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VARIANT - TERM ANNOTATION REPORT

RGD ID: 14693395
Species: Homo sapiens
RGD Object: Variant
Symbol: CV620297
Name: NM_000237.3(LPL):c.998G>A (p.Arg333His)
Acc ID: HP:0008158
Term: Hyperapobetalipoproteinemia
Definition: Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein.
Definition Source(s): https://orcid.org/0000-0002-0736-9199, PMID:6579550
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV620297 IAGP 8554872ClinVarClinVar Annotator: match by term: Hyperapobetalipoproteinemia

PMID:24291057 PMID:25741868 PMID:25966443 PMID:27055971 PMID:28492532 PMID:28606150
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