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Results for "EIF4G1"

Variant Events: 17

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
EIF4G1     Marques2022:238chr3:
184046427-184046427
ACexonicnonsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946
c.A3377C
c.A3470C
c.A3701C
c.A3965C
c.A3983C
c.A3842C
c.A3962C
c.A3983C
p.E1126A
p.E1157A
p.E1234A
p.E1322A
p.E1328A
p.E1281A
p.E1321A
p.E1328A
25.04.118E-5Marques2022 ET
EIF4G1     Marques2022:237chr3:
184045238-184045238
TCsplicingsplicing14.76-Marques2022 ET
EIF4G1     Marques2022:240chr3:
184046529-184046529
TCexonicnonsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946
c.T3479C
c.T3572C
c.T3803C
c.T4067C
c.T4085C
c.T3944C
c.T4064C
c.T4085C
p.M1160T
p.M1191T
p.M1268T
p.M1356T
p.M1362T
p.M1315T
p.M1355T
p.M1362T
18.644.0E-4Marques2022 ET
EIF4G1     Marques2022:239chr3:
184046529-184046529
TCexonicnonsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946
c.T3479C
c.T3572C
c.T3803C
c.T4067C
c.T4085C
c.T3944C
c.T4064C
c.T4085C
p.M1160T
p.M1191T
p.M1268T
p.M1356T
p.M1362T
p.M1315T
p.M1355T
p.M1362T
18.644.0E-4Marques2022 ET
EIF4G1     Marques2022:234chr3:
184045092-184045092
CTexonicnonsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946
c.C2932T
c.C3025T
c.C3256T
c.C3520T
c.C3538T
c.C3397T
c.C3517T
c.C3538T
p.R978W
p.R1009W
p.R1086W
p.R1174W
p.R1180W
p.R1133W
p.R1173W
p.R1180W
26.39.952E-5Marques2022 ET
EIF4G1     Marques2022:233chr3:
184045062-184045062
CTexonicnonsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946
c.C2902T
c.C2995T
c.C3226T
c.C3490T
c.C3508T
c.C3367T
c.C3487T
c.C3508T
p.R968W
p.R999W
p.R1076W
p.R1164W
p.R1170W
p.R1123W
p.R1163W
p.R1170W
20.32.483E-5Marques2022 ET
EIF4G1     Marques2022:236chr3:
184045222-184045222
GAexonicnonsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946
c.G3062A
c.G3155A
c.G3386A
c.G3650A
c.G3668A
c.G3527A
c.G3647A
c.G3668A
p.R1021H
p.R1052H
p.R1129H
p.R1217H
p.R1223H
p.R1176H
p.R1216H
p.R1223H
25.90.0012Marques2022 ET
EIF4G1     Marques2022:235chr3:
184045164-184045164
CTexonicnonsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946
c.C3004T
c.C3097T
c.C3328T
c.C3592T
c.C3610T
c.C3469T
c.C3589T
c.C3610T
p.R1002W
p.R1033W
p.R1110W
p.R1198W
p.R1204W
p.R1157W
p.R1197W
p.R1204W
16.978.384E-6Marques2022 ET
EIF4G1     Marques2022:242chr3:
184049850-184049850
GCexonicnonsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946
c.G4009C
c.G4102C
c.G4333C
c.G4597C
c.G4615C
c.G4474C
c.G4594C
c.G4615C
p.V1337L
p.V1368L
p.V1445L
p.V1533L
p.V1539L
p.V1492L
p.V1532L
p.V1539L
22.51.653E-5Marques2022 ET
EIF4G1     Marques2022:241chr3:
184049552-184049552
TAexonicnonsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946
c.T3847A
c.T3940A
c.T4171A
c.T4435A
c.T4453A
c.T4312A
c.T4432A
c.T4453A
p.L1283I
p.L1314I
p.L1391I
p.L1479I
p.L1485I
p.L1438I
p.L1478I
p.L1485I
21.1-Marques2022 ET
EIF4G1     12285.p1chr3:
184042810-184042810
ACexonicDe novononsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946
c.A2179C
c.A2272C
c.A2503C
c.A2767C
c.A2785C
c.A2644C
c.A2764C
c.A2785C
p.K727Q
p.K758Q
p.K835Q
p.K923Q
p.K929Q
p.K882Q
p.K922Q
p.K929Q
26.6-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
EIF4G1     12761.p1chr3:
184049725-184049725
TGintronicDe novo-3.298E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
EIF4G1     Marques2022:230chr3:
184035178-184035178
CTexonicnonsynonymous SNVNM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946
c.C217T
c.C238T
c.C97T
c.C217T
c.C238T
p.R73C
p.R80C
p.R33C
p.R73C
p.R80C
25.18.249E-6Marques2022 ET
EIF4G1     09C79965chr3:
184049690-184049690
CTintronicDe novo-8.247E-5Satterstrom2020 E
EIF4G1     Marques2022:232chr3:
184044707-184044707
CTexonicnonsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946
c.C2779T
c.C2872T
c.C3103T
c.C3367T
c.C3385T
c.C3244T
c.C3364T
c.C3385T
p.R927C
p.R958C
p.R1035C
p.R1123C
p.R1129C
p.R1082C
p.R1122C
p.R1129C
25.8-Marques2022 ET
EIF4G1     Marques2022:231chr3:
184039373-184039373
CAexonicnonsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946
c.C413A
c.C509A
c.C740A
c.C1001A
c.C1022A
c.C881A
c.C1001A
c.C1022A
p.P138Q
p.P170Q
p.P247Q
p.P334Q
p.P341Q
p.P294Q
p.P334Q
p.P341Q
15.858.238E-5Marques2022 ET
EIF4G1     Lim2017:5927chr3:
184042810-184042810
ACexonicDe novononsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946
c.A2179C
c.A2272C
c.A2503C
c.A2767C
c.A2785C
c.A2644C
c.A2764C
c.A2785C
p.K727Q
p.K758Q
p.K835Q
p.K923Q
p.K929Q
p.K882Q
p.K922Q
p.K929Q
26.6-Lim2017 E
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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