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Results for "EIF3G"

Variant Events: 7

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
EIF3G     2-1180-003chr19:
10234749-10234749
GAintergenicDe novo--Yuen2017 G
EIF3G     02C09535chr19:
10227494-10227494
TCexonicDe novononsynonymous SNVNM_003755c.A577Gp.K193E9.634-Satterstrom2020 E
EIF3G     21.s1chr19:
10229376-10229376
GAexonicDe novononsynonymous SNVNM_003755c.C268Tp.R90W23.91.65E-5An2014 E
EIF3G     12857.p1chr19:
10226255-10226255
CTexonicDe novononsynonymous SNVNM_003755c.G847Ap.A283T22.1-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
EIF3G     14585.p1 Complex Event; expand row to view variants  De novo-8.278E-6Iossifov2014 E
Iossifov2014 E
Kosmicki2017 E
Kosmicki2017 E
EIF3G     12198.p1 Complex Event; expand row to view variants  De novosynonymous SNV, frameshift deletionNM_003755
NM_003755
c.C142T
c.142_151del
p.L48L
p.L48fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krumm2015 E
O’Roak2012b E
EIF3G     ASC_CA_176_Achr19:
10226645-10226645
CTexonicDe novononsynonymous SNVNM_003755c.G701Ap.R234K18.36-Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

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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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