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VARIANT - TERM ANNOTATION REPORT

RGD ID: 26900254
Species: Homo sapiens
RGD Object: Variant
Symbol: CV849677
Name: NM_000074.3(CD40LG):c.386del (p.Glu129fs)
Acc ID: DOID:6620
Term: X-linked hyper IgM syndrome
Definition: A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene (300386) on chromosome Xq26. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-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)
CV849677 IAGP 8554872ClinVarClinVar Annotator: match by term: X-linked hyper-IgM syndrome

PMID:18805740 PMID:28492532 PMID:8550833
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