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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8610441
Species: Homo sapiens
RGD Object: Variant
Symbol: CV56738
Name: NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile)
Acc ID: DOID:11720
Term: distal myopathy
Definition: A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands. (DO)
Definition Source(s): https://rarediseases.org/rare-diseases/distal-myopathy/ "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)
CV56738 IAGP 8554872ClinVarClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs typePMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
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