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Results for "EFTUD2"

Variant Events: 14

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
EFTUD2     1-0935-003chr17:
42942372-42942372
GAexonicDe novononsynonymous SNVNM_001142605
NM_001258353
NM_001258354
NM_004247
c.C1106T
c.C1211T
c.C1181T
c.C1211T
p.T369M
p.T404M
p.T394M
p.T404M
29.58.237E-6Yuen2017 G
EFTUD2     2-0068-003chr17:
42960056-42960056
GTintronicDe novo--Yuen2017 G
EFTUD2     Mahjani2021:48chr17:
42929829-42929829
CTexonicnonsynonymous SNVNM_001142605
NM_001258353
NM_001258354
NM_004247
c.G2558A
c.G2663A
c.G2633A
c.G2663A
p.R853Q
p.R888Q
p.R878Q
p.R888Q
35.0-Mahjani2021 E
EFTUD2     3-0254-000chr17:
42932002-42932002
CTexonicDe novosynonymous SNVNM_001142605
NM_001258353
NM_001258354
NM_004247
c.G2076A
c.G2181A
c.G2151A
c.G2181A
p.L692L
p.L727L
p.L717L
p.L727L
--Tammimies2015 E
EFTUD2     1-0450-003chr17:
42942591-42942591
CTintronicDe novo--Yuen2017 G
EFTUD2     11341.p1chr17:
42938721-42938721
GCintronicDe novo--Turner2016 G
EFTUD2     11341.p1chr17:
42938727-42938727
CGintronicDe novo--Turner2016 G
EFTUD2     11341.p1 Complex Event; expand row to view variants  De novo--Turner2016 G
Turner2016 G
EFTUD2     11341.p1chr17:
42938749-42938749
GCintronicDe novo--Turner2016 G
EFTUD2     DEASD_1105_001chr17:
42937821-42937821
GAexonicDe novosynonymous SNVNM_001142605
NM_001258353
NM_001258354
NM_004247
c.C1593T
c.C1698T
c.C1668T
c.C1698T
p.T531T
p.T566T
p.T556T
p.T566T
-7.0E-4Satterstrom2020 E
EFTUD2     11341.p1chr17:
42938730-42938730
TAintronicDe novo--Turner2016 G
EFTUD2     11341.p1chr17:
42938738-42938738
GAintronicDe novo--Turner2016 G
EFTUD2     AU4013301chr17:
42934478-42934478
GAexonicDe novosynonymous SNVNM_001142605
NM_001258353
NM_001258354
NM_004247
c.C1905T
c.C2010T
c.C1980T
c.C2010T
p.S635S
p.S670S
p.S660S
p.S670S
--Yuen2017 G
EFTUD2     AU0786305chr17:
42962543-42962543
AGintronicDe novo--Yuen2017 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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