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VARIANT - TERM ANNOTATION REPORT

RGD ID: 15014951
Species: Homo sapiens
RGD Object: Variant
Symbol: CV679435
Name: NM_001105206.3(LAMA4):c.1364G>T (p.Ser455Ile)
Acc ID: DOID:0110438
Term: dilated cardiomyopathy 1JJ
Definition: A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17646580 "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)
CV679435 IAGP 8554872ClinVarClinVar Annotator: match by term: Dilated cardiomyopathy 1JJPMID:25741868 PMID:28492532 PMID:28986455
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