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VARIANT - TERM ANNOTATION REPORT

RGD ID: 152978264
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1311460
Name: NM_000527.5(LDLR):c.1550C>T (p.Ser517Phe)
Acc ID: DOID:13810
Term: familial hypercholesterolemia
Definition: A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Familial_hypercholesterolemia "DO" "DO"
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)
CV1311460 IAGP 8554872ClinVarClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 
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