IDH1 Protein Variant

Preferred Label : IDH1 Protein Variant;

NCIt synonyms : Isocitrate Dehydrogenase [NADP] Cytoplasmic Protein Variant; Cytosolic NADP-Isocitrate Dehydrogenase Protein Variant;

NCIt definition : A variation in the amino acid sequence for the isocitrate dehydrogenase [NADP] cytoplasmic protein.;

Details

Origin ID

C117278;

UMLS CUI

C3898825;

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_product_sequence_variation_encoded_by_gene_mutant
- IDH1 Gene Mutation [NCIt concept]
- IDH1 NM_005896.3:c.356G>A [NCIt concept]
- IDH1 NM_005896.3:c.394C>A [NCIt concept]
- IDH1 NM_005896.3:c.394C>G [NCIt concept]
- IDH1 NM_005896.3:c.394C>T [NCIt concept]
- IDH1 NM_005896.3:c.394_395delinsTC [NCIt concept]
- IDH1 NM_005896.3:c.395G>A [NCIt concept]
- IDH1 NM_005896.3:c.395G>T [NCIt concept]
- IDH1 NM_005896.3:c.395_396inv [NCIt concept]
gene_product_variant_of_gene_product
- Isocitrate Dehydrogenase [NADP] Cytoplasmic [NCIt concept]
molecular_abnormality_involves_gene
- IDH1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients