IDH1 NM_005896.3:c.394_395delinsTC

Preferred Label : IDH1 NM_005896.3:c.394_395delinsTC;

NCIt synonyms : NM_005896.3:c.394_395delCGinsTC; IDH c.394_395delCGinsTC; Isocitrate Dehydrogenase (NADP( )) 1, Cytosolic c.394_395delCGinsTC; IDH1 c.394_395CG TC; Isocitrate Dehydrogenase 1 (NADP ), Soluble c.394_395delCGinsTC; IDH1 c.394_395delCGinsTC; Isocitrate Dehydrogenase 1 (NADP ), Soluble c.394_395CG TC; Isocitrate Dehydrogenase (NADP( )) 1, Cytosolic c.394_395CG TC; IDH c.394_395CG TC; NM_005896.3:c.394_395CG TC; NM_005896.3:c.394_395delinsTC; IDH1 NM_005896.3:c.394_395delCGinsTC;

NCIt definition : A complex substitution where the nucleotide sequence at positions 394 and 395 of the coding sequence of the IDH1 gene has changed from cytosine-guanine to thymine-cytosine.;

NCI Metathesaurus CUI : CL513477;

Détails

Origin ID

C131094;

UMLS CUI

C4330387;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- IDH1 NP_005887.2:p.R132S [NCIt concept]
- IDH1 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- IDH Gene Family [NCIt concept]
- IDH1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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