Variant Results

or

Results for "EFTUD2"

Variant Events: 19

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

SP0037519

chr17:
42937401-42937401

G

A

exonic

De novo

stopgain

NM_001142605
NM_001258353
NM_001258354
NM_004247

c.C1627T
c.C1732T
c.C1702T
c.C1732T

p.R543X
p.R578X
p.R568X
p.R578X

40.0

-

Antaki2022 GE
Fu2022 E

EFTUD2

SP0049262

chr17:
42937269-42937269

A

G

intronic

De novo

-

Fu2022 E

EFTUD2

SP0087570

chr17:
42971844-42971844

C

G

exonic

De novo

nonsynonymous SNV

NM_001258353
NM_001258354
NM_004247

c.G46C
c.G46C
c.G46C

p.E16Q
p.E16Q
p.E16Q

18.74

-

Fu2022 E

EFTUD2

1-0935-003

chr17:
42942372-42942372

G

A

exonic

De novo

nonsynonymous SNV

NM_001142605
NM_001258353
NM_001258354
NM_004247

c.C1106T
c.C1211T
c.C1181T
c.C1211T

p.T369M
p.T404M
p.T394M
p.T404M

29.5

8.237E-6

Yuen2017 G

EFTUD2

2-0068-003

chr17:
42960056-42960056

G

T

intronic

De novo

-

Yuen2017 G

EFTUD2

Mahjani2021:48

chr17:
42929829-42929829

C

T

exonic

nonsynonymous SNV

NM_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

3-0254-000

chr17:
42932002-42932002

C

T

exonic

De novo

synonymous SNV

NM_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

AU0287-0201

chr17:
42945705-42945705

G

GT

exonic

De novo

stopgain

NM_001142605
NM_001258353
NM_001258354
NM_004247

c.902dupA
c.1007dupA
c.977dupA
c.1007dupA

p.Y301_Q302delinsX
p.Y336_Q337delinsX
p.Y326_Q327delinsX
p.Y336_Q337delinsX

-

Fu2022 E

EFTUD2

1-0450-003

chr17:
42942591-42942591

C

T

intronic

De novo

-

Yuen2017 G

EFTUD2

11341.p1

chr17:
42938721-42938721

G

C

intronic

De novo

-

Turner2016 G

EFTUD2

11341.p1

chr17:
42938727-42938727

C

G

intronic

De novo

-

Turner2016 G

EFTUD2

EGAN00001101211

chr17:
42929096-42929096

G

T

exonic

De novo

synonymous SNV

NM_001142605
NM_001258353
NM_001258354
NM_004247

c.C2700A
c.C2805A
c.C2775A
c.C2805A

p.I900I
p.I935I
p.I925I
p.I935I

-

9.839E-5

Fu2022 E

EFTUD2

11341.p1

Complex Event; expand row to view variants

De novo

-

Turner2016 G
Turner2016 G

EFTUD2

11341.p1

chr17:
42938749-42938749

G

C

intronic

De novo

-

Turner2016 G

EFTUD2

DEASD_1105_001

chr17:
42937821-42937821

G

A

exonic

De novo

synonymous SNV

NM_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-4

Satterstrom2020 E

EFTUD2

11341.p1

chr17:
42938730-42938730

T

A

intronic

De novo

-

Turner2016 G

EFTUD2

11341.p1

chr17:
42938738-42938738

G

A

intronic

De novo

-

Turner2016 G

EFTUD2

AU4013301

chr17:
42934478-42934478

G

A

exonic

De novo

synonymous SNV

NM_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

AU0786305

chr17:
42962543-42962543

A

G

intronic

De novo

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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