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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8599960
Species: Homo sapiens
RGD Object: Variant
Symbol: CV29822
Name: NM_000454.5(SOD1):c.289G>A (p.Asp97Asn)
Acc ID: DOID:0060193
Term: amyotrophic lateral sclerosis type 1
Definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "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)
CV29822 IAGP 8554872ClinVarClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessivePMID:10809943 PMID:11220750 PMID:23280792 PMID:26467025
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