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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8604769
Species: Homo sapiens
RGD Object: Variant
Symbol: CV50063
Name: NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
Acc ID: HP:0002664
Term: Neoplasm
Definition: An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).
Definition Source(s): https://orcid.org/0000-0002-0736-9199
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)
CV50063 IAGP 8554872ClinVarClinVar Annotator: match by term: Neoplasm

PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 PMID:23806086 PMID:24088041 PMID:24728327 PMID:25605252 PMID:25736269 PMID:25741868 PMID:25859546 PMID:26467025 PMID:28492532 PMID:32934698
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