IDH1 NM_005896.3:c.395G A

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

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

NCIt related terms : G395A;

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

NCI Metathesaurus CUI : CL512152;

SNP ID : rs121913500;

Details

Origin ID

C128826;

UMLS CUI

C4288930;

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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