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IDH2 NM_002168.3:c.515_516delinsAA

MedGen UID:
1392535
•Concept ID:
C4330396
•
Cell or Molecular Dysfunction
Synonyms: IDH c.515_516delGGinsAA; IDH c.515_516GG>AA; IDH2 c.515_516delGGinsAA; IDH2 c.515_516GG>AA; IDH2 NM_002168.3:c.515_516delGGinsAA; IDH2 NM_002168.3:c.515_516GG>AA; Isocitrate Dehydrogenase (NADP(+)) 2, Mitochondrial c.515_516delGGinsAA; Isocitrate Dehydrogenase (NADP(+)) 2, Mitochondrial c.515_516GG>AA; Isocitrate Dehydrogenase 2 (NADP+), Mitochondrial c.515_516delGGinsAA; Isocitrate Dehydrogenase 2 (NADP+), Mitochondrial c.515_516GG>AA; NM_002168.3:c.515_516delGGinsAA; NM_002168.3:c.515_516delinsAA; NM_002168.3:c.515_516GG>AA

Definition

A complex substitution where the nucleotide sequence at positions 515 and 516 of the coding sequence of the IDH1 gene has changed from guanine-guanine to adenine-adenine. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIDH2 NM_002168.3:c.515_516delinsAA

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