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VARIANT - TERM ANNOTATION REPORT

RGD ID: 12834778
Species: Homo sapiens
RGD Object: Variant
Symbol: CV377390
Name: NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)
Acc ID: DOID:9001211
Term: cerebral venous thrombosis
Definition: This disease involves formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.
Definition Source(s): HP:0005305
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)
CV377390 IAGP 8554872ClinVarClinVar Annotator: match by term: Cerebral venous thrombosisPMID:25741868 PMID:26467025 PMID:28492532
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