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VARIANT - TERM ANNOTATION REPORT

RGD ID: 39457547
Species: Homo sapiens
RGD Object: Variant
Symbol: CV962460
Name: NM_000135.4(FANCA):c.189+2T>A
Acc ID: DOID:13636
Term: Fanconi anemia
Definition: A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Fanconi_anemia "DO" "DO", http://ghr.nlm.nih.gov/condition/fanconi-anemia "DO" "DO", http://rarediseases.info.nih.gov/gard/6425/fanconi-anemia/resources/1 "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)
CV962460 IAGP 8554872ClinVarClinVar Annotator: match by term: Fanconi anemiaPMID:16199547 PMID:19367192 PMID:28492532
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