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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8569594
Species: Homo sapiens
RGD Object: Variant
Symbol: CV45116
Name: NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)
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.
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