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VARIANT - TERM ANNOTATION REPORT

RGD ID: 156175933
Species: Homo sapiens
RGD Object: Variant
Symbol: CV2144760
Name: NM_004387.4(NKX2-5):c.551T>A (p.Ile184Asn)
Acc ID: DOID:0110112
Term: atrial heart septal defect 7
Definition: An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9651244 "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)
CV2144760 IAGP 8554872ClinVarClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndromePMID:23661673 PMID:27855642 PMID:28492532
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