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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8641918
Species: Homo sapiens
RGD Object: Variant
Symbol: CV100902
Name: NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=)
Acc ID: DOID:0050663
Term: Bethlem myopathy
Definition: A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/873/bethlem-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)
CV100902 IAGP 8554872ClinVarClinVar Annotator: match by term: Collagen VI-related myopathyPMID:15689448 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532
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