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VARIANT - TERM ANNOTATION REPORT

RGD ID: 12849308
Species: Homo sapiens
RGD Object: Variant
Symbol: CV379505
Name: NM_000206.3(IL2RG):c.202G>A (p.Glu68Lys)
Acc ID: DOID:0060013
Term: X-linked severe combined immunodeficiency
Definition: A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency "DO" "DO", https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency#synonyms "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)
CV379505 IAGP 8554872ClinVarClinVar Annotator: match by term: X-linked severe combined immunodeficiencyPMID:11129345 PMID:24534054 PMID:25741868 PMID:28492532 PMID:8088810
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