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VARIANT - TERM ANNOTATION REPORT

RGD ID: 14700231
Species: Homo sapiens
RGD Object: Variant
Symbol: CV625598
Name: NM_000166.6(GJB1):c.399G>T (p.Trp133Cys)
Acc ID: DOID:10595
Term: Charcot-Marie-Tooth disease
Definition: A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. (DO)
Definition Source(s): https://www.genome.gov/11009201 "DO" "DO", https://www.genome.gov/Genetic-Disorders/Charcot-Marie-Tooth-Disease "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)
CV625598 IAGP 8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:28492532 PMID:7477983 PMID:9452099
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