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VARIANT - TERM ANNOTATION REPORT

RGD ID: 156039819
Species: Homo sapiens
RGD Object: Variant
Symbol: CV2094063
Name: NM_032861.4(SERAC1):c.1965A>G (p.Ter655=)
Acc ID: DOID:0110001
Term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Definition: A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22683713 "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)
CV2094063 IAGP 8554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndromePMID:28492532
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