IDH1 NM_005896.3:c.395G T

Preferred Label : IDH1 NM_005896.3:c.395G T;

NCIt synonyms : IDH c.395G T; NM_005896.3:c.395G T; IDH1 c.395G T; Isocitrate Dehydrogenase 1 (NADP ), Soluble c.395G T; Isocitrate Dehydrogenase (NADP( )) 1, Cytosolic c.395G T;

NCIt related terms : G395T;

NCIt definition : A nucleotide substitution at position 395 of the coding sequence of the IDH1 gene where guanine has been mutated to thymine.;

NCI Metathesaurus CUI : CL513478;

SNP ID : rs121913500;

Details

Origin ID

C131100;

UMLS CUI

C4330388;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- IDH1 NP_005887.2:p.R132L [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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