Variant Results

or

Results for "EBF2"

Variant Events: 43

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

EBF2

AU3792301

chr8:
25807549-25807549

C

T

intronic

De novo

-

Trost2022 G

EBF2

1-1137-003

chr8:
25833353-25833353

C

A

intronic

De novo

-

Trost2022 G

EBF2

3-0294-000

chr8:
25777288-25777288

T

G

intronic

De novo

-

Trost2022 G

EBF2

1-1058-004

chr8:
25792053-25792053

A

G

intronic

De novo

-

Trost2022 G

EBF2

5-0018-003

chr8:
25938494-25938496

TCA

T

intergenic

De novo

-

Yuen2017 G

EBF2

T2T9E-01

chr8:
25768823-25768823

C

G

intronic

De novo

-

Trost2022 G

EBF2

12948.p1

chr8:
25720189-25720189

A

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

EBF2

3-0294-000

chr8:
25775609-25775609

C

A

intronic

De novo

-

Trost2022 G

EBF2

MT_166.3

chr8:
25767577-25767580

ATGT

A

intronic

De novo

-

Trost2022 G

EBF2

1-0460-003

chr8:
25846954-25846954

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EBF2

3-0294-000

chr8:
25767731-25767731

T

C

intronic

De novo

-

Trost2022 G

EBF2

7-0256-003

chr8:
26019549-26019549

C

T

intergenic

De novo

-

Yuen2017 G

EBF2

2-0285-003

chr8:
25715995-25715995

G

C

exonic

De novo

nonsynonymous SNV

NM_022659

c.C1368G

p.I456M

14.5

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

EBF2

2-0296-004

chr8:
25885047-25885047

A

TG

intronic

De novo

-

Trost2022 G

EBF2

3-0740-000A

chr8:
25834416-25834416

T

C

intronic

De novo

-

Trost2022 G

EBF2

REACH000073

chr8:
25855114-25855114

C

A

intronic

De novo

-

Trost2022 G

EBF2

1-0068-003

chr8:
25735148-25735148

G

C

intronic

De novo

-

Yuen2017 G

EBF2

AU028305

chr8:
26043871-26043871

A

T

intergenic

De novo

-

Yuen2017 G

EBF2

AU046706

chr8:
26131818-26131818

G

A

intergenic

De novo

-

Yuen2017 G

EBF2

5-0083-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

EBF2

AU3057302

chr8:
26003619-26003619

G

T

intergenic

De novo

-

Yuen2017 G

EBF2

5-0015-004

chr8:
25807800-25807800

G

T

intronic

De novo

-

Yuen2017 G

EBF2

AU4013303

chr8:
26107769-26107769

G

A

intergenic

De novo

-

Yuen2017 G

EBF2

AU3997301

chr8:
25770416-25770416

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EBF2

AU3124304

chr8:
25814086-25814086

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EBF2

AU3955303

chr8:
26127864-26127864

C

T

intergenic

De novo

-

Yuen2017 G

EBF2

AU3371305

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

EBF2

SP0024944

chr8:
25744297-25744297

C

T

exonic

nonsynonymous SNV

NM_022659

c.G983A

p.G328E

31.0

-

Zhou2022 GE

EBF2

5-0106-003

chr8:
26137437-26137437

T

A

intergenic

De novo

-

Yuen2017 G

EBF2

14642.p1

chr8:
25756214-25756214

T

C

intronic

De novo

-

Turner2016 G

EBF2

AU1542303

chr8:
25893605-25893605

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EBF2

A4

chr8:
25800067-25800067

C

G

intronic

De novo

-

Wu2018 G

EBF2

12289.p1

chr8:
25718903-25718903

C

T

intronic

De novo

-

3.0E-4

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

EBF2

1-0273-004

chr8:
25998614-25998614

A

G

intergenic

De novo

-

Yuen2017 G

EBF2

AU072504

chr8:
26121985-26121985

G

A

intergenic

De novo

-

Yuen2017 G

EBF2

5-5014-003

chr8:
25750641-25750641

G

A

intronic

De novo

-

Trost2022 G

EBF2

3-0294-000

chr8:
25767491-25767491

G

A

intronic

De novo

-

Trost2022 G

EBF2

7-0230-003

chr8:
25735440-25735440

G

C

intronic

De novo

-

Trost2022 G

EBF2

AU2250301

chr8:
25735461-25735461

T

C

intronic

De novo

-

Trost2022 G

EBF2

1-0214-003

chr8:
25842276-25842276

T

C

intronic

De novo

-

Yuen2017 G

EBF2

REACH000540

chr8:
25712949-25712949

G

A

intronic

De novo

-

Trost2022 G

EBF2

2-1552-003

chr8:
25716840-25716840

G

A

intronic

De novo

-

Trost2022 G

EBF2

MSSNG00363-003

chr8:
25704236-25704236

C

G

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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