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VARIANT - TERM ANNOTATION REPORT

RGD ID: 11524774
Species: Homo sapiens
RGD Object: Variant
Symbol: CV246591
Name: NM_000527.5(LDLR):c.2389+4A>G
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)
CV246591 IAGP 8554872ClinVarClinVar Annotator: match by term: Hyper-beta-lipoproteinemiaPMID:15241806 PMID:17955342 PMID:19318025 PMID:25741868 PMID:28475941 PMID:28492532 PMID:30293936 PMID:30312929 PMID:34456049 PMID:36769678
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