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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8569594
Species: Homo sapiens
RGD Object: Variant
Symbol: CV45116
Name: NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys)
Acc ID: DOID:9000808
Term: Hypercholesterolemia
Definition: A condition with abnormally high levels of CHOLESTEROL in the blood. It is defined as a cholesterol value exceeding the 95th percentile for the population.
Definition Source(s): MESH:D006937
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.
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.