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VARIANT - TERM ANNOTATION REPORT

RGD ID: 156066468
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1874384
Name: NM_001558.4(IL10RA):c.470A>G (p.Tyr157Cys)
Acc ID: DOID:0110899
Term: inflammatory bowel disease 28
Definition: An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19890111 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22476154 "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)
CV1874384 IAGP 8554872ClinVarClinVar Annotator: match by term: Inflammatory bowel disease 28PMID:28267044 PMID:28492532 PMID:29531467 PMID:30894704
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