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VARIANT - TERM ANNOTATION REPORT

RGD ID: 9687256
Species: Homo sapiens
RGD Object: Variant
Symbol: CV171159
Name: NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys)
Acc ID: DOID:0110454
Term: dilated cardiomyopathy 1S
Definition: A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11106718 "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)
CV171159 IAGP 8554872ClinVarClinVar Annotator: match by term: Dilated cardiomyopathy 1SPMID:19293840 PMID:21424860 PMID:21839045 PMID:22337857 PMID:23299917 PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532
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