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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8610105
Species: Homo sapiens
RGD Object: Variant
Symbol: CV56401
Name: NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys)
Acc ID: DOID:0110430
Term: dilated cardiomyopathy 1G
Definition: A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11788824 "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)
CV56401 IAGP 8554872ClinVarClinVar Annotator: match by term: Dilated cardiomyopathy 1GPMID:17344846 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
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