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VARIANT - TERM ANNOTATION REPORT

RGD ID: 11088017
Species: Homo sapiens
RGD Object: Variant
Symbol: CV228160
Name: NM_000527.4(LDLR):c.1118_1121dup (p.Tyr375fs)
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
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IAGP 8554872ClinVarClinVar Annotator: match by term: Familial hypercholesterolemias

PMID:10208479, PMID:1301956, PMID:16389549, PMID:17094996, PMID:2088165, PMID:22881376, PMID:23680767, PMID:24033266, PMID:24075752, PMID:25741868, PMID:28492532, PMID:9259195
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.