IDH1 isocitrate dehydrogenase (NADP(+)) 1, cytosolic

Canonical transcript: NM_005896

219 unique variant annotations were identified in 599 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
2-209101311-C-A c.*492G>T - 3-UTRSNV 10/10 - 1
2-209101832-T-C c.1216A>G p.Lys406Glu Missense 10/10 - 1
2-209101857-G-C c.1191C>G p.Phe397Leu Missense 10/10 - 1
2-209101857-G-T c.1191C>A p.Phe397Leu Missense 10/10 - 1
2-209101859-A-G c.1189T>C p.Phe397Leu Missense 10/10 - 1
2-209101873-A-T c.1175T>A p.Leu392* Nonsense 10/10 - 1
2-209101876-T-A c.1172A>T p.Tyr391Phe Missense 10/10 - 1
2-209103811-T-A c.1138A>T p.Ile380Phe Missense 9/10 - 1
2-209103812-G-A c.1137C>T p.Cys379Cys Synonymous 9/10 - 1
2-209103826-C-A c.1123G>T p.Asp375Tyr Missense 9/10 - 1
2-209103840-C-T c.1109G>A p.Gly370Asp Missense 9/10 - 1
2-209103868-C-T c.1081G>A p.Glu361Lys Missense 9/10 - 1
2-209103871-C-T c.1078G>A p.Glu360Lys Missense 9/10 - 1
2-209103872-C-A c.1077G>T p.Leu359Phe Missense 9/10 - 1
2-209103872-C-G c.1077G>C p.Leu359Phe Missense 9/10 - 1
2-209103886-A-C c.1063T>G p.Phe355Val Missense 9/10 - 1
2-209103891-GGC-G c.1057_1058del p.Ala353Leufs*12 Frameshift 9/10 - 1
2-209103894-A-G c.1055T>C p.Leu352Pro Missense 9/10 - 1
2-209103903-T-C c.1046A>G p.Asn349Ser Missense 9/10 - 1
2-209103927-G-A c.1022C>T p.Ala341Val Missense 9/10 - 1
2-209103933-C-T c.1016G>A p.Gly339Glu Missense 9/10 - 1
2-209103934-C-A c.1015G>T p.Gly339Trp Missense 9/10 - 1
2-209103936-C-G c.1013G>C p.Arg338Thr Missense 9/10 - 1
2-209103952-T-C c.997A>G p.Ile333Val Missense 9/10 - 1
2-209104589-A-T c.989T>A p.Ile330Asn Missense 8/10 - 1
2-209104599-T-C c.979A>G p.Thr327Ala Missense 8/10 - 1
2-209104628-CG-GA c.949_950delinsTC p.Arg317Ser Missense 8/10 - 1
2-209104634-TG-GC c.943_944delinsGC p.His315Ala Missense 8/10 - 2
2-209104636-A-C c.942T>G p.Arg314Arg Synonymous 8/10 - 1
2-209104636-A-G c.942T>C p.Arg314Arg Synonymous 8/10 - 1
2-209104636-A-T c.942T>A p.Arg314Arg Synonymous 8/10 - 1
2-209104637-CG-GA c.940_941delinsTC p.Arg314Ser Missense 8/10 - 1
2-209104637-C-T c.941G>A p.Arg314His Missense 8/10 - 1
2-209104638-G-A c.940C>T p.Arg314Cys Missense 8/10 - 3
2-209104646-G-A c.932C>T p.Thr311Ile Missense 8/10 - 1
2-209104649-C-A c.929G>T p.Gly310Val Missense 8/10 - 1
2-209104652-TG-GC c.925_926delinsGC p.His309Ala Missense 8/10 - 1
2-209104658-G-A c.920C>T p.Ala307Val Missense 8/10 - 1
2-209104659-C-A c.919G>T p.Ala307Ser Missense 8/10 - 1
2-209104660-C-A c.918G>T p.Glu306Asp Missense 8/10 - 1
2-209104660-C-G c.918G>C p.Glu306Asp Missense 8/10 - 1
2-209104681-A-C c.897T>G p.Asp299Glu Missense 8/10 - 1
2-209104681-A-T c.897T>A p.Asp299Glu Missense 8/10 - 1
2-209104688-C-G c.890G>C p.Cys297Ser Missense 8/10 - 1
2-209104689-A-T c.889T>A p.Cys297Ser Missense 8/10 - 1
2-209104698-C-A c.880G>T p.Val294Leu Missense 8/10 - 1
2-209104698-C-G c.880G>C p.Val294Leu Missense 8/10 - 1
2-209104698-C-T c.880G>A p.Val294Met Missense 8/10 - 1
2-209104708-C-A c.870G>T p.Met290Ile Missense 8/10 - 1
2-209104708-C-G c.870G>C p.Met290Ile Missense 8/10 - 1
2-209104708-C-T c.870G>A p.Met290Ile Missense 8/10 - 1
2-209104727-C-A c.851G>T p.Gly284Val Missense 8/10 - 1
2-209106723-G-A c.845C>T p.Ala282Val Missense 7/10 - 1
2-209106729-G-A c.839C>T p.Ser280Phe Missense 7/10 - 3
2-209106732-T-G c.836A>C p.Asp279Ala Missense 7/10 - 2
2-209106736-A-G c.832T>C p.Ser278Pro Missense 7/10 - 1
2-209106753-T-C c.815A>G p.Tyr272Cys Missense 7/10 - 1
2-209106762-C-G c.806G>C p.Cys269Ser Missense 7/10 - 1
2-209106763-A-T c.805T>A p.Cys269Ser Missense 7/10 - 1
2-209106780-C-A c.788G>T p.Gly263Val Missense 7/10 - 1
2-209106784-C-G c.784G>C p.Glu262Gln Missense 7/10 - 1
2-209106784-C-T c.784G>A p.Glu262Lys Missense 7/10 - 1
2-209106786-G-A c.782C>T p.Ser261Leu Missense 7/10 - 1
2-209106788-TTT-GAC c.778_780delinsGTC p.Lys260Val Missense 7/10 - 1
2-209106807-A-T c.761T>A p.Met254Lys Missense 7/10 - 1
2-209106813-T-C c.755A>G p.Asp252Gly Missense 7/10 - 1
2-209106813-T-G c.755A>C p.Asp252Ala Missense 7/10 - 1
2-209106814-C-T c.754G>A p.Asp252Asn Missense 7/10 - 1
2-209106814-TCGA-T c.752_754del p.Ile251_Asp252delinsAsn MultiAAMissense 7/10 - 1
2-209106821-C-A c.747G>T p.Arg249Ser Missense 7/10 - 1
2-209106821-CCT-GAC c.745_747delinsGTC p.Arg249Val Missense 7/10 - 1
2-209106821-C-G c.747G>C p.Arg249Ser Missense 7/10 - 1
2-209106823-T-C c.745A>G p.Arg249Gly Missense 7/10 - 1
2-209106826-G-C c.742C>G p.His248Asp Missense 7/10 - 1
2-209106841-T-C c.727A>G p.Lys243Glu Missense 7/10 - 1
2-209106864-T-C c.704A>G p.Tyr235Cys Missense 7/10 - 3
2-209108166-T-C c.683A>G p.Gln228Arg Missense 6/10 - 1
2-209108176-C-T c.673G>A p.Asp225Asn Missense 6/10 - 1
2-209108185-G-A c.664C>T p.Arg222Cys Missense 6/10 - 1
2-209108193-T-A c.656A>T p.Tyr219Phe Missense 6/10 - 1
2-209108198-C-A c.651G>T p.Lys217Asn Missense 6/10 - 1
2-209108198-C-G c.651G>C p.Lys217Asn Missense 6/10 - 1
2-209108215-T-A c.634A>T p.Lys212* Nonsense 6/10 - 1
2-209108215-TT-T c.638del p.Asn213Thrfs*4 Frameshift 6/10 - 1
2-209108220-C-T c.629G>A p.Ser210Asn Missense 6/10 - 2
2-209108225-A-C c.624T>G p.Tyr208* Nonsense 6/10 - 1
2-209108225-A-T c.624T>A p.Tyr208* Nonsense 6/10 - 1
2-209108226-T-C c.623A>G p.Tyr208Cys Missense 6/10 - 2
2-209108238-C-T c.611G>A p.Gly204Asp Missense 6/10 - 1
2-209108241-CTTAG-C c.605_608del p.Ser202Trpfs*7 Frameshift 6/10 - 1
2-209108248-G-A c.601C>T p.Leu201Leu Synonymous 6/10 - 1
2-209108252-CCAT-C c.595_597del p.Met199del InFrameDeletion 6/10 - 1
2-209108253-A-C c.596T>G p.Met199Arg Missense 6/10 - 1
2-209108256-T-G c.593A>C p.Gln198Pro Missense 6/10 - 1
2-209108271-G-A c.578C>T p.Ala193Val Missense 6/10 - 1
2-209108272-C-A c.577G>T p.Ala193Ser Missense 6/10 - 1
2-209108273-A-C c.576T>G p.Phe192Leu Missense 6/10 - 1
2-209108273-A-T c.576T>A p.Phe192Leu Missense 6/10 - 1
2-209108275-A-G c.574T>C p.Phe192Leu Missense 6/10 - 1
2-209108281-C-T c.568G>A p.Glu190Lys Missense 6/10 - 1
2-209108284-T-A c.565A>T p.Ile189Phe Missense 6/10 - 1
2-209108284-T-C c.565A>G p.Ile189Val Missense 6/10 - 1
2-209108301-T-C c.548A>G p.Tyr183Cys Missense 6/10 - 8
2-209108305-T-C c.544A>G p.Met182Val Missense 6/10 - 2
2-209108313-G-T c.536C>A p.Ala179Asp Missense 6/10 - 1
2-209108316-AC-TG c.532_533delinsCA p.Val178His Missense 6/10 - 1
2-209108316-A-G c.533T>C p.Val178Ala Missense 6/10 - 1
2-209108317-C-T c.532G>A p.Val178Ile Missense 6/10 - 18
2-209108319-C-T c.530G>A p.Gly177Asp Missense 6/10 - 1
2-209108322-CC-AA c.526_527delinsTT p.Gly176Phe Missense 6/10 - 1
2-209108325-C-A c.524G>T p.Gly175Val Missense 6/10 - 1
2-209110051-T-G c.512A>C p.Asn171Thr Missense 5/10 - 1
2-209110072-T-C c.491A>G p.Lys164Arg Missense 5/10 - 1
2-209110082-C-G c.481G>C p.Gly161Arg Missense 5/10 - 1
2-209110082-C-T c.481G>A p.Gly161Arg Missense 5/10 - 1
2-209110083-G-C c.480C>G p.Asp160Glu Missense 5/10 - 1
2-209110083-G-T c.480C>A p.Asp160Glu Missense 5/10 - 1
2-209110110-T-A c.453A>T p.Lys151Asn Missense 5/10 - 1
2-209110110-T-G c.453A>C p.Lys151Asn Missense 5/10 - 1
2-209110111-TT-GC c.451_452delinsGC p.Lys151Ala Missense 5/10 - 2
2-209110124-G-T c.439C>A p.Pro147Thr Missense 5/10 - 1
2-209110143-TCT-TGG c.418_419delinsCC p.Arg140Pro Missense 5/10 - 2
2-209110144-C-T c.419G>A p.Arg140Lys Missense 5/10 - 2
2-209110144-CT-CA c.418delinsT p.Arg140* Missense 5/10 - 18
2-209110145-T-C c.418A>G p.Arg140Gly Missense 5/10 - 1
2-209110147-T-A c.416A>T p.Tyr139Phe Missense 5/10 - 1
2-209110147-TA-GC c.415_416delinsGC p.Tyr139Ala Missense 5/10 - 1
2-209110148-A-C c.415T>G p.Tyr139Asp Missense 5/10 - 4
2-209110784-C-T c.415-636G>A - IntronicSNV - 4/9 1
2-209112551-G-A c.414+542C>T - IntronicSNV - 4/9 2
2-209113103-T-A c.404A>T p.Tyr135Phe Missense 4/10 - 1
2-209113106-G-T c.401C>A p.Ala134Asp Missense 4/10 - 6
2-209113108-A-C c.399T>G p.His133Gln Missense 4/10 - 7
2-209113108-A-T c.399T>A p.His133Gln Missense 4/10 - 7
2-209113109-TG-GC c.397_398delinsGC p.His133Ala Missense 4/10 - 1
2-209113111-A-C c.396T>G p.Arg132Arg Synonymous 4/10 - 1
2-209113111-A-G c.396T>C p.Arg132Arg Synonymous 4/10 - 1
2-209113111-A-T c.396T>A p.Arg132Arg Synonymous 4/10 - 1
2-209113112-C-A c.395G>T p.Arg132Leu Missense 4/10 - 127
2-209113112-C-G c.395G>C p.Arg132Pro Missense 4/10 - 10
2-209113112-CG-AA c.394_395delinsTT p.Arg132Phe Missense 4/10 - 3
2-209113112-CG-AC c.394_395delinsGT p.Arg132Val Missense 4/10 - 1
2-209113112-CG-AT c.394_395delinsAT p.Arg132Ile Missense 4/10 - 2
2-209113112-CG-GC c.394_395delinsGC p.Arg132Ala Missense 4/10 - 5
2-209113112-CG-GT c.394_395delinsAC p.Arg132Thr Missense 4/10 - 18
2-209113112-CG-TA c.394_395delinsTA p.Arg132Tyr Missense 4/10 - 1
2-209113112-CG-TT c.394_395delinsAA p.Arg132Asn Missense 4/10 - 4
2-209113112-C-T c.395G>A p.Arg132His Missense 4/10 - 1502
2-209113113-G-A c.394C>T p.Arg132Cys Missense 4/10 - 446
2-209113113-G-C c.394C>G p.Arg132Gly Missense 4/10 - 183
2-209113113-G-T c.394C>A p.Arg132Ser Missense 4/10 - 174
2-209113114-A-T c.393T>A p.Gly131Gly Synonymous 4/10 - 1
2-209113115-C-G c.392G>C p.Gly131Ala Missense 4/10 - 1
2-209113117-T-C c.390A>G p.Ile130Met Missense 4/10 - 6
2-209113119-T-C c.388A>G p.Ile130Val Missense 4/10 - 1
2-209113128-G-A c.379C>T p.Pro127Ser Missense 4/10 - 1
2-209113133-A-C c.374T>G p.Val125Gly Missense 4/10 - 1
2-209113140-C-T c.367G>A p.Gly123Arg Missense 4/10 - 9
2-209113151-C-G c.356G>C p.Arg119Pro Missense 4/10 - 1
2-209113151-C-T c.356G>A p.Arg119Gln Missense 4/10 - 2
2-209113152-G-A c.355C>T p.Arg119Trp Missense 4/10 - 1
2-209113154-G-A c.353C>T p.Pro118Leu Missense 4/10 - 2
2-209113173-T-C c.334A>G p.Ile112Val Missense 4/10 - 1
2-209113175-G-A c.332C>T p.Ala111Val Missense 4/10 - 1
2-209113181-C-T c.326G>A p.Arg109Lys Missense 4/10 - 1
2-209113185-A-G c.322T>C p.Phe108Leu Missense 4/10 - 1
2-209113190-G-A c.317C>T p.Thr106Met Missense 4/10 - 1
2-209113192-G-A c.315C>T p.Gly105Gly Synonymous 4/10 - 38
2-209113192-G-C c.315C>G p.Gly105Gly Synonymous 4/10 - 20
2-209113192-G-T c.315C>A p.Gly105Gly Synonymous 4/10 - 20
2-209113193-C-T c.314G>A p.Gly105Asp Missense 4/10 - 1
2-209113196-C-A c.311G>T p.Gly104Val Missense 4/10 - 1
2-209113200-G-T c.307C>A p.Leu103Met Missense 4/10 - 1
2-209113202-A-G c.305T>C p.Ile102Thr Missense 4/10 - 1
2-209113208-CG-GC c.298_299delinsGC p.Arg100Ala Missense 4/10 - 3
2-209113208-C-T c.299G>A p.Arg100Gln Missense 4/10 - 10
2-209113209-G-A c.298C>T p.Arg100* Nonsense 4/10 - 2
2-209113210-T-C c.297A>G p.Ile99Met Missense 4/10 - 7
2-209113214-G-A c.293C>T p.Thr98Ile Missense 4/10 - 1
2-209113214-GT-GG c.292delinsC p.Thr98Pro Missense 4/10 - 54
2-209113217-C-T c.290G>A p.Gly97Asp Missense 4/10 - 10
2-209113222-TG-AT c.284_285delinsAT p.Pro95His Missense 4/10 - 1
2-209113223-G-A c.284C>T p.Pro95Leu Missense 4/10 - 1
2-209113227-A-G c.280T>C p.Ser94Pro Missense 4/10 - 1
2-209113240-T-G c.267A>C p.Lys89Asn Missense 4/10 - 1
2-209113243-C-A c.264G>T p.Leu88Phe Missense 4/10 - 1
2-209113243-C-G c.264G>C p.Leu88Phe Missense 4/10 - 1
2-209113252-C-T c.255G>A p.Glu85Glu Synonymous 4/10 - 1
2-209113257-C-G c.250G>C p.Glu84Gln Missense 4/10 - 1
2-209113262-C-T c.245G>A p.Arg82Lys Missense 4/10 - 2
2-209113264-C-A c.243G>T p.Lys81Asn Missense 4/10 - 1
2-209113264-C-G c.243G>C p.Lys81Asn Missense 4/10 - 1
2-209113272-C-T c.235G>A p.Asp79Asn Missense 4/10 - 1
2-209113278-T-C c.229A>G p.Thr77Ala Missense 4/10 - 2
2-209113280-A-G c.227T>C p.Ile76Thr Missense 4/10 - 1
2-209113296-C-T c.211G>A p.Val71Ile Missense 4/10 - 10
2-209113298-C-T c.209G>A p.Gly70Asp Missense 4/10 - 6
2-209113320-C-A c.187G>T p.Ala63Ser Missense 4/10 - 1
2-209113324-TGC-TGT c.181delinsA p.Ala61Thr Missense 4/10 - 1
2-209113347-C-T c.160G>A p.Asp54Asn Missense 4/10 - 1
2-209113362-G-A c.145C>T p.Arg49Cys Missense 4/10 - 6
2-209113368-C-T c.139G>A p.Glu47Lys Missense 4/10 - 1
2-209113382-T-A c.125A>T p.Tyr42Phe Missense 4/10 - 1
2-209116164-C-T c.112G>A p.Asp38Asn Missense 3/10 - 1
2-209116175-T-C c.101A>G p.Tyr34Cys Missense 3/10 - 1
2-209116179-G-A c.97C>T p.Pro33Ser Missense 3/10 - 1
2-209116182-A-C c.94T>G p.Phe32Val Missense 3/10 - 2
2-209116194-C-G c.82G>C p.Glu28Gln Missense 3/10 - 1
2-209116195-TT-TG c.80delinsC p.Lys27Thr Missense 3/10 - 128
2-209116197-T-G c.79A>C p.Lys27Gln Missense 3/10 - 1
2-209116217-C-T c.59G>A p.Arg20Gln Missense 3/10 - 1
2-209116218-G-A c.58C>T p.Arg20* Nonsense 3/10 - 1
2-209116227-C-T c.49G>A p.Glu17Lys Missense 3/10 - 1
2-209116237-CAT-TTT c.38_39delinsAA p.Met13Lys Missense 3/10 - 5
2-209116238-A-C c.38T>G p.Met13Arg Missense 3/10 - 3
2-209116753-G-A c.-16-462C>T - IntronicSNV - 2/9 1
2-209117297-C-T c.-16-1006G>A - IntronicSNV - 2/9 1
2-209117317-A-G c.-16-1026T>C - IntronicSNV - 2/9 3
2-209117317-A-T c.-16-1026T>A - IntronicSNV - 2/9 3