IDH1 NM_005896.3:c.395_396inv

Preferred Label : IDH1 NM_005896.3:c.395_396inv;

NCIt synonyms : Isocitrate Dehydrogenase 1 (NADP ), Soluble c.395_396GT AC; Isocitrate Dehydrogenase 1 (NADP( )), Cytosolic c.395_396GT AC; IDH1 NM_005896.3:c.395_396GT AC; IDH c.395_396GT AC; IDH1 c.395_396delGTinsAC; NM_005896.3:c.395_396GT AC; NM_005896.3:c.395_396delGTinsAC; IDH1 c.395_396GT AC; NM_005896.3:c.395_396inv;

NCIt related terms : IDH1 NM_005896.3:c.395_396delGTinsAC;

NCIt definition : A complex substitution where the nucleotide sequence at positions 395 and 396 of the coding sequence of the IDH1 gene has changed from thymine-guanine to adenine-cytosine.;

NCI Metathesaurus CUI : CL512153;

Details

Origin ID

C128900;

UMLS CUI

C4288929;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- IDH1 NP_005887.2:p.R132H [NCIt concept]
- IDH1 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- IDH Gene Family [NCIt concept]
- IDH1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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