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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13622320
Species: Homo sapiens
RGD Object: Variant
Symbol: CV527883
Name: NM_001376.5(DYNC1H1):c.5326G>A (p.Ala1776Thr)
Acc ID: DOID:0110175
Term: Charcot-Marie-Tooth disease axonal type 2O
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21820100 "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)
CV527883 IAGP 8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2OPMID:28492532
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