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VARIANT - TERM ANNOTATION REPORT

RGD ID: 151864288
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1374606
Name: NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg)
Acc ID: DOID:0060676
Term: catecholaminergic polymorphic ventricular tachycardia 2
Definition: A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13. (DO)
Definition Source(s): PMID:11401939 "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)
CV1374606 IAGP 8554872ClinVarClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2PMID:25741868 PMID:28492532 PMID:32693635
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