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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8598535
Species: Homo sapiens
RGD Object: Variant
Symbol: CV25612
Name: NM_000133.4(F9):c.224G>A (p.Arg75Gln)
Acc ID: DOID:0080839
Term: X-linked warfarin sensitivity
Definition: An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/29450643/ "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)
CV25612 IAGP 8554872ClinVarClinVar Annotator: match by term: COUMARIN SENSITIVITY, X-LINKEDPMID:19699296 PMID:2066105 PMID:22639855 PMID:24375831 PMID:25741868 PMID:2773937 PMID:28492532 PMID:28722788 PMID:31064749
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