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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8607357
Species: Homo sapiens
RGD Object: Variant
Symbol: CV53713
Name: NM_002471.4(MYH6):c.909G>A (p.Leu303=)
Acc ID: DOID:0110320
Term: hypertrophic cardiomyopathy 14
Definition: A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11815426 "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)
CV53713 IAGP 8554872ClinVarClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14PMID:24033266 PMID:25741868 PMID:28492532
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