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VARIANT - TERM ANNOTATION REPORT

RGD ID: 9689577
Species: Homo sapiens
RGD Object: Variant
Symbol: CV176058
Name: NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln)
Acc ID: DOID:9005230
Term: Autosomal Dominant Deafness 4
Definition: null
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)
CV176058 IAGP 8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal dominant 4PMID:24033266 PMID:25741868 PMID:28492532
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