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VARIANT - TERM ANNOTATION REPORT

RGD ID: 152123488
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1664609
Name: NM_000433.4(NCF2):c.1000+13G>A
Acc ID: DOID:0070191
Term: autosomal recessive chronic granulomatous disease 2
Definition: A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/7795241 "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)
CV1664609 IAGP 8554872ClinVarClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2PMID:28492532
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