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VARIANT - TERM ANNOTATION REPORT

RGD ID: 11578987
Species: Homo sapiens
RGD Object: Variant
Symbol: CV263975
Name: NM_002016.2(FLG):c.2218C>T (p.Arg740Ter)
Acc ID: DOID:0110098
Term: atopic dermatitis 2
Definition: An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16912508 "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)
CV263975 IAGP 8554872ClinVarClinVar Annotator: match by term: Dermatitis, atopic, 2PMID:23301728 PMID:24077912 PMID:25741868
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