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Results for "EIF2AK3"

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
EIF2AK3     13749.p1chr2:
88913390-88913390
TGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
EIF2AK3     74-0355chr2:
88936112-88936112
CAintergenicDe novo--Michaelson2012 G
EIF2AK3     A8chr2:
88888537-88888537
GCintronicDe novo--Wu2018 G
EIF2AK3     12795.p1chr2:
88962954-88962954
GAintergenicDe novo--Turner2016 G
EIF2AK3     TAS_F4013Ychr2:
88895042-88895042
ATexonicDe novononsynonymous SNVNM_001313915
NM_004836
c.T125A
c.T578A
p.V42D
p.V193D
26.8-Satterstrom2020 E
EIF2AK3     2-1241-003chr2:
88901783-88901783
ATintronicDe novo--Yuen2016 G
Yuen2017 G
EIF2AK3     13804.p1chr2:
88874874-88874874
ACexonicDe novononsynonymous SNVNM_001313915
NM_004836
c.T1674G
c.T2127G
p.I558M
p.I709M
14.2-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 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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