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IDH2 NM_002168.3:c.514A>T

MedGen UID:
1639836
•Concept ID:
C4682931
•
Cell or Molecular Dysfunction
Synonyms: IDH c.514A>T; IDH2 c.514A>T; Isocitrate Dehydrogenase (NADP(+)) 2, Mitochondrial c.514A>T; Isocitrate Dehydrogenase 2 (NADP+), Mitochondrial c.514A>T; NM_002168.3:c.514A>T

Definition

A nucleotide substitution at position 514 of the coding sequence of the IDH2 gene where adenine has been mutated to thymine. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIDH2 NM_002168.3:c.514A>T

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