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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8643125
Species: Homo sapiens
RGD Object: Variant
Symbol: CV102108
Name: NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp)
Acc ID: DOID:0080319
Term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
Definition: A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1). (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/x-linked-immunodeficiency-with-magnesium-defect-epstein-barr-virus-infection-and-neoplasia#genes "DO" "DO", https://meshb.nlm.nih.gov/record/ui?ui=C536288 "DO" "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=317476 "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)
CV102108 IAGP 8554872ClinVarClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasiaPMID:25741868 PMID:28492532
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