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VARIANT - TERM ANNOTATION REPORT

RGD ID: 34891433
Species: Homo sapiens
RGD Object: Variant
Symbol: CV908345
Name: NM_000384.3(APOB):c.4699G>A (p.Glu1567Lys)
Acc ID: DOID:9005519
Term: Hyperlipoproteinemia Type II
Definition: A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins).
Definition Source(s): MESH:D006938
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)
CV908345 IAGP 8554872ClinVarClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type BPMID:28492532
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