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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8569718
Species: Homo sapiens
RGD Object: Variant
Symbol: CV45380
Name: NM_000536.4(RAG2):c.217C>T (p.Arg73Cys)
Acc ID: DOID:0112253
Term: combined cellular and humoral immune defects with granulomas
Definition: A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/18463379/ "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)
CV45380 IAGP 8554872ClinVarClinVar Annotator: match by term: Combined immunodeficiency with skin granulomasPMID:20603253 PMID:21131235 PMID:24481607 PMID:25109802 PMID:25333069 PMID:25741868 PMID:26476733 PMID:26515615 PMID:28492532 PMID:28747913
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