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VARIANT - TERM ANNOTATION REPORT

RGD ID: 11548286
Species: Homo sapiens
RGD Object: Variant
Symbol: CV249635
Name: NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn)
Acc ID: DOID:0081350
Term: congenital myopathy 18
Definition: A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/33060286/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/34763287/ "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)
CV249635 IAGP 8554872ClinVarClinVar Annotator: match by term: Congenital myopathy 18PMID:19825159 PMID:25658027 PMID:25741868 PMID:26467025 PMID:28492532
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