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VARIANT - TERM ANNOTATION REPORT

RGD ID: 12741959
Species: Homo sapiens
RGD Object: Variant
Symbol: CV227702
Name: NM_002465.4(MYBPC1):c.742G>A (p.Glu248Lys)
Acc ID: DOID:0081348
Term: congenital myopathy 16
Definition: A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/31025394/ "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)
CV227702 IAGP 8554872ClinVarClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH TREMORPMID:25741868 PMID:31025394
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