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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8691285
Species: Homo sapiens
RGD Object: Variant
Symbol: CV141245
Name: NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)
Acc ID: DOID:0060480
Term: left ventricular noncompaction
Definition: An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16567565 "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)
CV141245 IAGP 8554872ClinVarClinVar Annotator: match by term: Left ventricular noncompactionPMID:23861362 PMID:25145518 PMID:25145519 PMID:25642760 PMID:25741868 PMID:26467025 PMID:27173043 PMID:27659478 PMID:28104484 PMID:28182231 PMID:28254189 PMID:28492532
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