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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8690343
Species: Homo sapiens
RGD Object: Variant
Symbol: CV140291
Name: NM_021830.5(TWNK):c.1102G>A (p.Val368Ile)
Acc ID: DOID:2476
Term: hereditary spastic paraplegia
Definition: A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Familial_spastic_paraplegia "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)
CV140291 IAGP 8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegiaPMID:25741868 PMID:26467025 PMID:28492532
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