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VARIANT - TERM ANNOTATION REPORT

RGD ID: 401940960
Species: Homo sapiens
RGD Object: Variant
Symbol: CV2833944
Name: NM_007294.4(BRCA1):c.5332+455G>C
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)
CV2833944 IAGP 8554872ClinVarClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1PMID:25741868
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