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VARIANT - TERM ANNOTATION REPORT

RGD ID: 151849760
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1427696
Name: NM_000043.6(FAS):c.767A>G (p.Glu256Gly)
Acc ID: DOID:6688
Term: autoimmune lymphoproliferative syndrome
Definition: A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome "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)
CV1427696 IAGP 8554872ClinVarClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANTPMID:28492532
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