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VARIANT - TERM ANNOTATION REPORT

RGD ID: 42723855
Species: Homo sapiens
RGD Object: Variant
Symbol: CV983842
Name: NM_000487.6(ARSA):c.607T>C (p.Tyr203His)
Acc ID: DOID:10581
Term: metachromatic leukodystrophy
Definition: A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy "DO" "DO", http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy "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)
CV983842 IAGP 8554872ClinVarClinVar Annotator: match by term: Metachromatic leukodystrophyPMID:18786133 PMID:23559313 PMID:25741868 PMID:28492532 PMID:31694723
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