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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8595559
Species: Homo sapiens
RGD Object: Variant
Symbol: CV16998
Name: NM_000022.4(ADA):c.986C>T (p.Ala329Val)
Acc ID: DOID:5810
Term: adenosine deaminase deficiency
Definition: A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/2166947/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/2783588/ "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)
CV16998 IAGP 8554872ClinVarClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiencyPMID:1346349 PMID:25326637 PMID:25741868 PMID:26376800 PMID:26467025 PMID:2651461 PMID:2773932 PMID:28492532 PMID:3182793 PMID:3475710 PMID:8401541 PMID:8614422 PMID:9758612
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