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VARIANT - TERM ANNOTATION REPORT

RGD ID: 156239974
Species: Homo sapiens
RGD Object: Variant
Symbol: CV2152343
Name: NM_007315.4(STAT1):c.2101T>A (p.Tyr701Asn)
Acc ID: DOID:0111944
Term: immunodeficiency 31B
Definition: A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/12590259/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/19084105/ "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)
CV2152343 IAGP 8554872ClinVarClinVar Annotator: match by term: Immunodeficiency 31BPMID:23585529 PMID:23709754 PMID:28492532 PMID:28601685 PMID:28859974 PMID:31114772
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