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VARIANT - TERM ANNOTATION REPORT

RGD ID: 401942433
Species: Homo sapiens
RGD Object: Variant
Symbol: CV2837788
Name: NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter)
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)
CV2837788 IAGP 8554872ClinVarClinVar Annotator: match by term: Fanconi anemiaPMID:17436244 PMID:25741868 PMID:28492532
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