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VARIANT - TERM ANNOTATION REPORT

RGD ID: 9833296
Species: Homo sapiens
RGD Object: Variant
Symbol: CV179492
Name: NM_000257.4(MYH7):c.5065C>T (p.Arg1689Cys)
Acc ID: DOID:0060253
Term: scapuloperoneal myopathy
Definition: A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/28179901 "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)
CV179492 IAGP 8554872ClinVarClinVar Annotator: match by term: Scapuloperoneal syndrome, myopathic typePMID:21310275 PMID:25741868 PMID:28492532 PMID:32163302 PMID:33495597
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