IDH1 NM_005896.3:c.394C T

Preferred Label : IDH1 NM_005896.3:c.394C T;

NCIt synonyms : IDH1 c.394C T; Isocitrate Dehydrogenase 1 (NADP ), Soluble c.394C T; Isocitrate Dehydrogenase (NADP( )) 1, Cytosolic c.394C T; IDH c.394C T; NM_005896.3:c.394C T;

NCIt related terms : C394T;

NCIt definition : A nucleotide substitution at position 394 of the coding sequence of the IDH1 gene where cytosine has been mutated to thymine.;

NCI Metathesaurus CUI : CL513476;

SNP ID : rs121913499;

Details

Origin ID

C131098;

UMLS CUI

C4330386;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- IDH1 NP_005887.2:p.R132C [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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