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Results for "EIF4G1"

Variant Events: 23

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     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-Fu2022 E
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     CC1363_203chr3:
184043704-184043704		CTexonicDe novononsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946		c.C2602T
c.C2695T
c.C2926T
c.C3190T
c.C3208T
c.C3067T
c.C3187T
c.C3208T		p.P868S
p.P899S
p.P976S
p.P1064S
p.P1070S
p.P1023S
p.P1063S
p.P1070S		16.26-Fu2022 E
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     SP0065193chr3:
184046685-184046688		CTCTCintronicDe novo-8.238E-6Fu2022 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     SP0117834chr3:
184037479-184037479		GTexonicDe novononsynonymous SNVNM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946		c.G166T
c.G427T
c.G448T
c.G307T
c.G427T
c.G448T		p.G56C
p.G143C
p.G150C
p.G103C
p.G143C
p.G150C		16.6-Fu2022 E
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
EIF4G1     SP0053702chr3:
184035359-184035359		TAintronicDe novo--Fu2022 E
EIF4G1     SP0035464chr3:
184039671-184039671		GAexonicDe novosynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946		c.G711A
c.G807A
c.G1038A
c.G1299A
c.G1320A
c.G1179A
c.G1299A
c.G1320A		p.A237A
p.A269A
p.A346A
p.A433A
p.A440A
p.A393A
p.A433A
p.A440A		--Fu2022 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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