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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8596334
Species: Homo sapiens
RGD Object: Variant
Symbol: CV19239
Name: NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
Acc ID: DOID:0110201
Term: Charcot-Marie-Tooth disease recessive intermediate A
Definition: A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12499475 "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)
CV19239 IAGP 8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate APMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:20301711 PMID:25231362 PMID:25337607 PMID:25741868 PMID:26467025 PMID:27549087 PMID:28492532 PMID:31589614 PMID:32183277 PMID:32376792 PMID:33477664 PMID:35662277 PMID:36140714
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