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Results for "EEF1D"

Variant Events: 6

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
EEF1D     Chen2017:50chr8:
144671359-144671359
GAexonicDe novononsynonymous SNVNM_001130053
NM_032378
c.C893T
c.C893T
p.A298V
p.A298V
0.719-Chen2017 E
EEF1D     Chen2017:51chr8:
144671357-144671357
GAexonicDe novononsynonymous SNVNM_001130053
NM_032378
c.C895T
c.C895T
p.P299S
p.P299S
7.923-Chen2017 E
EEF1D     iHART1700chr8:
144668980-144668980
CTexonicPaternalstopgainNM_001130056
NM_001130057
NM_001195203
NM_001289950
NM_001960
NM_001130055
NM_001130053
NM_032378
c.G36A
c.G36A
c.G36A
c.G36A
c.G36A
c.G36A
c.G1134A
c.G1134A
p.W12X
p.W12X
p.W12X
p.W12X
p.W12X
p.W12X
p.W378X
p.W378X
41.0-Ruzzo2019 G
EEF1D     200675464@1082035034chr8:
144671357-144671357
GAexonicDe novononsynonymous SNVNM_001130053
NM_032378
c.C895T
c.C895T
p.P299S
p.P299S
7.923-Satterstrom2020 E
EEF1D     7-0012-003chr8:
144668593-144668593
CTintronicDe novo--Yuen2017 G
EEF1D     74-0265chr8:
144662545-144662545
CTintronicDe novo--Michaelson2012 G
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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