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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8698130
Species: Homo sapiens
RGD Object: Variant
Symbol: CV152234
Name: NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg)
Acc ID: DOID:0111089
Term: Fanconi anemia complementation group D1
Definition: A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12065746 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/14670928 "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)
CV152234 IAGP 8554872ClinVarClinVar Annotator: match by term: Fanconi anemia complementation group D1PMID:18824701 PMID:22476429 PMID:25741868 PMID:26295337 PMID:26467025 PMID:28339459 PMID:28492532 PMID:31131967 PMID:33293522
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