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VARIANT - TERM ANNOTATION REPORT

RGD ID: 12834296
Species: Homo sapiens
RGD Object: Variant
Symbol: CV363530
Name: NM_000546.6(TP53):c.637C>G (p.Arg213Gly)
Acc ID: DOID:3012
Term: Li-Fraumeni syndrome
Definition: A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Li%E2%80%93Fraumeni_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome "DO" "DO", https://www.lfsassociation.org/what-is-lfs/ "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)
CV363530 IAGP 8554872ClinVarClinVar Annotator: match by term: Li-Fraumeni syndromePMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644 PMID:33332384
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