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VARIANT - TERM ANNOTATION REPORT

RGD ID: 10403931
Species: Homo sapiens
RGD Object: Variant
Symbol: CV206963
Name: NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)
Acc ID: DOID:0110781
Term: hereditary spastic paraplegia 30
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/31488895/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21487076 "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)
CV206963 IAGP 8554872ClinVarClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessivePMID:25741868 PMID:26467025 PMID:28492532
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