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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8610710
Species: Homo sapiens
RGD Object: Variant
Symbol: CV57008
Name: NM_001267550.2(TTN):c.14004C>T (p.Thr4668=)
Acc ID: DOID:0111188
Term: myofibrillar myopathy 9
Definition: A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15802564 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/23486992 "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)
CV57008 IAGP 8554872ClinVarClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failurePMID:24033266 PMID:25741868 PMID:28492532
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