Variant Results

or

Results for "ZEB2"

Variant Events: 28

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

ZEB2

1-0336-004

chr2:
145217556-145217560

GAAGA

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZEB2

1-0511-003

chr2:
145151483-145151506

GTTTATTTATTTATTTATTTATTT

GTTTATTTATTTATTTATTT

intronic

De novo

-

Yuen2017 G

ZEB2

SSC09358

chr2:
145157228-145157228

G

A

exonic

De novo

nonsynonymous SNV

NM_001171653
NM_014795

c.C1454T
c.C1526T

p.P485L
p.P509L

12.14

-

Fu2022 E
Trost2022 G

ZEB2

2-0256-004

chr2:
145171996-145171996

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZEB2

AU3636301

chr2:
145180153-145180153

G

A

intronic

De novo

-

Yuen2017 G

ZEB2

12412.p1

chr2:
145161724-145161724

G

A

intronic

De novo

-

Satterstrom2020 E
Wilfert2021 G

ZEB2

SP0076596

chr2:
145153994-145153994

T

C

exonic

De novo

nonsynonymous SNV

NM_001171653
NM_014795

c.A2980G
c.A3052G

p.K994E
p.K1018E

26.8

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

ZEB2

AU1988302

chr2:
145178790-145178790

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZEB2

1-0004-003

chr2:
145221953-145221953

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZEB2

1-0976-003

chr2:
145266743-145266743

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZEB2

Lee2020:122

chr2:
145156260-145156260

C

T

exonic

nonsynonymous SNV

NM_001171653
NM_014795

c.G2422A
c.G2494A

p.A808T
p.A832T

8.127

-

Lee2020 T

ZEB2

SP0005327

chr2:
145153940-145153940

G

C

intronic

De novo

-

Fu2022 E

ZEB2

Cukier2014:7531

chr2:
145157478-145157478

A

T

exonic

Unknown

nonsynonymous SNV

NM_001171653
NM_014795

c.T1204A
c.T1276A

p.L402I
p.L426I

9.351

4.0E-4

Cukier2014 E

ZEB2

SP0055239

chr2:
145156852-145156852

G

A

exonic

De novo

synonymous SNV

NM_001171653
NM_014795

c.C1830T
c.C1902T

p.L610L
p.L634L

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ZEB2

SSC04851

chr2:
145161724-145161724

G

A

intronic

De novo

-

Trost2022 G

ZEB2

SP0161921

chr2:
145162398-145162398

C

T

intronic

De novo

-

Trost2022 G

ZEB2

SP0040315

chr2:
145161470-145161470

A

G

intronic

De novo

-

Trost2022 G

ZEB2

SP0040315

chr2:
145161474-145161474

T

G

intronic

De novo

-

Trost2022 G

ZEB2

1-0303-004

chr2:
145266429-145266429

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZEB2

13894.p1

chr2:
145157228-145157228

G

A

exonic

De novo

nonsynonymous SNV

NM_001171653
NM_014795

c.C1454T
c.C1526T

p.P485L
p.P509L

12.14

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

ZEB2

MSSNG00033-003

chr2:
145269074-145269074

G

A

intronic

De novo

-

Trost2022 G

ZEB2

AU3649304

chr2:
145203572-145203574

CAT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZEB2

1-0482-003

chr2:
145216385-145216385

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZEB2

3-0668-000

chr2:
145233725-145233725

T

C

intronic

De novo

-

Trost2022 G

ZEB2

2-1528-003

chr2:
145248884-145248885

AA

TT

intronic

De novo

-

Trost2022 G

ZEB2

MSSNG00054-004

chr2:
145177356-145177356

A

T

intronic

De novo

-

Trost2022 G

ZEB2

13043.p1

chr2:
145190819-145190819

G

A

intronic

De novo

-

Wilfert2021 G

ZEB2

MSSNG00354-003

chr2:
145212971-145212971

G

A

intronic

De novo

-

Trost2022 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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