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VARIANT - TERM ANNOTATION REPORT

RGD ID: 10048151
Species: Homo sapiens
RGD Object: Variant
Symbol: CV192364
Name: NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe)
Acc ID: DOID:9002704
Term: Leukoencephalopathies
Definition: Any of various diseases affecting the white matter of the central nervous system.
Definition Source(s): MESH:D056784
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)
CV192364 IAGP 8554872ClinVarClinVar Annotator: match by term: CACH syndromePMID:11704758 PMID:14993275 PMID:25089094 PMID:25326635 PMID:25741868 PMID:28492532 PMID:31418856
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