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VARIANT - TERM ANNOTATION REPORT

RGD ID: 405010341
Species: Homo sapiens
RGD Object: Variant
Symbol: CV2912041
Name: NM_017534.6(MYH2):c.1562C>T (p.Ala521Val)
Acc ID: DOID:0080719
Term: congenital myopathy 6
Definition: A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/24193343/ "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)
CV2912041 IAGP 8554872ClinVarClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegiaPMID:28492532
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