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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8559806
Species: Homo sapiens
RGD Object: Variant
Symbol: CV22324
Name: NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)
Acc ID: DOID:0110197
Term: Charcot-Marie-Tooth disease dominant intermediate B
Definition: A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2). (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15731758 "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)
CV22324 IAGP 8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate BPMID:17932957 PMID:18414213 PMID:20227276 PMID:20700106 PMID:22396310 PMID:23338057 PMID:24135484 PMID:25741868 PMID:25957634 PMID:26199319 PMID:28492532 PMID:32860008
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