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VARIANT - TERM ANNOTATION REPORT

RGD ID: 11545597
Species: Homo sapiens
RGD Object: Variant
Symbol: CV255044
Name: NM_000021.4(PSEN1):c.1017A>G (p.Glu339=)
Acc ID: DOID:0110455
Term: dilated cardiomyopathy 1U
Definition: A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17186461 "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)
CV255044 IAGP 8554872ClinVarClinVar Annotator: match by term: Cardiomyopathy, dilated, 1uPMID:25741868 PMID:28492532
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