IDH2, isocitrate dehydrogenase (NADP(+)) 2, 3418

N. diseases: 380; N. variants: 15
Disease: MYELODYSPLASTIC SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913502
rs121913502
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		A 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913502
rs121913502
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		T 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913502
rs121913502
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		0.720 GeneticVariation BEFREE In the current study of 277 patients with MDS, IDH mutations were detected in 34 (12%) cases: 26 IDH2 (all R140Q) and 8 IDH1 (6 R132S and 2 R132C). 22033490 2012
dbSNP: rs121913502
rs121913502
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		0.720 GeneticVariation BEFREE Intriguingly, the IDH2 mutation p.R140Q and novel IDH1 mutation p.I99M co-occurred in a 75-year-old patient with AML developed from myelodysplastic syndromes (MDS). 20946881 2010
dbSNP: rs267606870
rs267606870
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs118101777
rs118101777
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		0.010 GeneticVariation BEFREE All the initial diagnostic specimens with IDH1 p.R132H mutation including acute myeloid leukemia (n=30), myelodysplastic syndromes (MDS) (n=10), MDS/myeloproliferative neoplasms (MPN) (n=4), and MPN (n=5) were positive by IHC, demonstrating 100% antibody sensitivity. 29635257 2018