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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8603187
Species: Homo sapiens
RGD Object: Variant
Symbol: CV45945
Name: NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser)
Acc ID: DOID:1612
Term: breast cancer
Definition: A thoracic cancer that originates in the mammary gland. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Breast_cancer "DO" "DO", http://en.wikipedia.org/wiki/Mammary "DO" "DO", http://www.cancer.gov/cancertopics/types/breast "DO" "DO", http://www.nlm.nih.gov/medlineplus/breastcancer.html "DO" "DO", https://www.genome.gov/Genetic-Disorders/Breast-Cancer "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)
CV45945 IAGP 8554872ClinVarClinVar Annotator: match by term: Malignant tumor of breastPMID:10323242 PMID:16267036 PMID:18627636 PMID:22277901 PMID:25337278 PMID:25741868 PMID:26467025 PMID:26727311 PMID:27907908 PMID:28222693 PMID:28492532 PMID:30093976 PMID:30702160 PMID:31112341 PMID:32546644 PMID:33087888
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