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VARIANT - TERM ANNOTATION REPORT

RGD ID: 9691740
Species: Homo sapiens
RGD Object: Variant
Symbol: CV48922
Name: NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
Acc ID: HP:0002408
Term: Cerebral arteriovenous malformation
Definition: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.
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)
CV48922 IAGP 8554872ClinVarClinVar Annotator: match by term: Cerebral arteriovenous malformation

PMID:12110640 PMID:14982869 PMID:17056636 PMID:17324647 PMID:18628094 PMID:20652921 PMID:20949621 PMID:24033266 PMID:24803665 PMID:25741868 PMID:28492532 PMID:29948256
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