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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8660635
Species: Homo sapiens
RGD Object: Variant
Symbol: CV135700
Name: NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)
Acc ID: DOID:9008255
Term: Cognitive Impairment with or Without Cerebellar Ataxia
Definition: Cognitive impairment with or without cerebellar ataxia is caused by heterozygous mutation in the SCN8A gene on chromosome 12q13. (OMIM)
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)
CV135700 IAGP 8554872ClinVarClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxiaPMID:25741868 PMID:26467025 PMID:28492532
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