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VARIANT - TERM ANNOTATION REPORT

RGD ID: 28872857
Species: Homo sapiens
RGD Object: Variant
Symbol: CV897980
Name: NM_002047.4(GARS1):c.1188T>C (p.Val396=)
Acc ID: DOID:0111203
Term: autosomal dominant distal hereditary motor neuronopathy 5
Definition: An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12690580 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22703882 "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)
CV897980 IAGP 8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A 
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