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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8603569
Species: Homo sapiens
RGD Object: Variant
Symbol: CV46371
Name: NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg)
Acc ID: DOID:5683
Term: hereditary breast ovarian cancer syndrome
Definition: A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Hereditary_breast%E2%80%93ovarian_cancer_syndrome "DO" "DO", http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page1 "DO" "DO", https://www.jax.org/education-and-learning/clinical-and-continuing-education/cancer-resources/hereditary-breast-and-ovarian-cancer-syndrome-factsheet "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1247/ "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)
CV46371 IAGP 8554872ClinVarClinVar Annotator: match by term: Hereditary breast ovarian cancer syndromePMID:12845657 PMID:21671020 PMID:22293751 PMID:22711857 PMID:23328489 PMID:24323938 PMID:25637381 PMID:25741868 PMID:25948282 PMID:26467025 PMID:26992456 PMID:28477318 PMID:28492532 PMID:29021639 PMID:31159747 PMID:31911673 PMID:32123317 PMID:32613071 PMID:33471991
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