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VARIANT - TERM ANNOTATION REPORT

RGD ID: 405080020
Species: Homo sapiens
RGD Object: Variant
Symbol: CV2863780
Name: NM_000166.6(GJB1):c.310A>T (p.Lys104Ter)
Acc ID: DOID:0050542
Term: Charcot-Marie-Tooth disease type X
Definition: A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. (DO)
Definition Source(s): http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm "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)
CV2863780 IAGP 8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy XPMID:21291455 PMID:28492532 PMID:7477983 PMID:8162049 PMID:9364054
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