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VARIANT - TERM ANNOTATION REPORT

RGD ID: 9689900
Species: Homo sapiens
RGD Object: Variant
Symbol: CV175103
Name: NM_203447.4(DOCK8):c.289C>A (p.Pro97Thr)
Acc ID: DOID:0080545
Term: hyper IgE syndrome
Definition: A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/autosomal-dominant-hyper-ige-syndrome#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)
CV175103 IAGP 8554872ClinVarClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessivePMID:24033266 PMID:25741868 PMID:26680607 PMID:28492532
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