Unique variants in gene IDH2


This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
Information The variants shown are described using the NM_002168.2 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 1 3 c.265C>T likely pathogenic, ACMG: 4 r.(?) p.(Arg89Cys) g.90633819G>A - - - IDH2_000003 - PubMed: TumienÄ— 2018 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.327G>A likely benign r.(?) p.(=) g.90633757C>T - IDH2(NM_002168.3):c.327G>A (p.V109=) - IDH2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.407A>C VUS r.(?) p.(Asn136Thr) g.90631946T>G - - - IDH2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.563G>A likely benign r.(?) p.(Arg188Gln) g.90631706C>T - IDH2(NM_002168.3):c.563G>A (p.R188Q) - IDH2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.730T>C likely benign r.(?) p.(Trp244Arg) g.90630756A>G - IDH2(NM_002168.2):c.730T>C (p.(Trp244Arg)) - IDH2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.810T>G likely benign r.(?) p.(Phe270Leu) g.90630676A>C - IDH2(NM_002168.2):c.810T>G (p.(Phe270Leu)) - IDH2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1050C>T likely benign r.(?) p.(=) g.90628537G>A - IDH2(NM_002168.2):c.1050C>T (p.(=)) - IDH2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1178+8T>C likely benign r.(=) p.(=) g.90628225A>G - IDH2(NM_002168.3):c.1178+8T>C - IDH2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.1304C>T likely benign r.(?) p.(Thr435Met) g.90627553G>A - IDH2(NM_002168.2):c.1304C>T (p.(Thr435Met)), IDH2(NM_002168.3):c.1304C>T (p.T435M) - IDH2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
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