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VARIANT - TERM ANNOTATION REPORT

RGD ID: 15144549
Species: Homo sapiens
RGD Object: Variant
Symbol: CV693928
Name: NM_001378030.1(CCDC78):c.827C>T (p.Ala276Val)
Acc ID: DOID:0111224
Term: centronuclear myopathy 4
Definition: An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22818856 "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)
CV693928 IAGP 8554872ClinVarClinVar Annotator: match by term: Myopathy, centronuclear, 4PMID:25741868 PMID:28492532
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