Variant Results

or

Results for "E2F7"

Variant Events: 48

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

E2F7

1-0197-004

chr12:
78174304-78174304

G

A

intergenic

De novo

-

Yuen2017 G

E2F7

1-0292-005

chr12:
78200814-78200814

A

T

intergenic

De novo

-

Yuen2017 G

E2F7

2-1341-003

chr12:
77452421-77452421

C

CA

intronic

De novo

-

Trost2022 G
Yuen2017 G

E2F7

AU4487302

chr12:
78060951-78060951

A

G

intergenic

De novo

-

Yuen2017 G

E2F7

1-0508-003

chr12:
78066330-78066345

ATGTGTGTGTGTGTGT

ATGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

E2F7

1-0325-003

chr12:
78114101-78114101

G

A

intergenic

De novo

-

Yuen2017 G

E2F7

2-1290-004

chr12:
78210320-78210320

G

T

intergenic

De novo

-

Yuen2017 G

E2F7

2-1518-003

chr12:
77957503-77957503

G

A

intergenic

De novo

-

Yuen2017 G

E2F7

AU3637301

chr12:
78048669-78048669

G

T

intergenic

De novo

-

Yuen2017 G

E2F7

5-0014-003

chr12:
77513317-77513317

A

G

intergenic

De novo

-

Yuen2017 G

E2F7

2-1278-003

chr12:
77869349-77869349

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

E2F7

AU3729303

chr12:
78057737-78057737

A

T

intergenic

De novo

-

Yuen2017 G

E2F7

041-07-107684

chr12:
77419315-77419315

C

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

E2F7

2-1526-004

chr12:
77965043-77965043

G

A

intergenic

De novo

-

Yuen2017 G

E2F7

1-0530-003

chr12:
78199328-78199328

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

E2F7

1-0567-004

chr12:
77426751-77426751

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

E2F7

2-1212-003

chr12:
77494325-77494325

A

C

intergenic

De novo

-

Yuen2017 G

E2F7

SSC02599

chr12:
77440061-77440061

G

A

exonic

De novo

synonymous SNV

NM_203394

c.C586T

p.L196L

-

Fu2022 E
Lim2017 E
Trost2022 G

E2F7

08C75098

chr12:
77449880-77449880

C

T

exonic

De novo

nonsynonymous SNV

NM_203394

c.G124A

p.A42T

12.5

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

E2F7

SP0005195

chr12:
77436967-77436967

C

T

exonic

De novo

nonsynonymous SNV

NM_203394

c.G1001A

p.R334H

35.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

E2F7

2-0208-003

chr12:
77586005-77586005

G

C

intergenic

De novo

-

Yuen2017 G

E2F7

B5X9C-01

chr12:
77449047-77449047

A

G

intronic

De novo

-

Trost2022 G

E2F7

A8

chr12:
77680940-77680940

C

T

intergenic

De novo

-

Wu2018 G

E2F7

2-1334-003

chr12:
78060591-78060591

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

E2F7

AU0146301

chr12:
77944497-77944497

A

G

intergenic

De novo

-

Yuen2017 G

E2F7

1-0389-004

chr12:
77927424-77927427

GGAA

G

intergenic

De novo

-

Yuen2017 G

E2F7

MSSNG00011-003

chr12:
77428086-77428086

T

A

intronic

De novo

-

Trost2022 G

E2F7

SJD_22.3

chr12:
77428431-77428431

C

T

intronic

De novo

-

Trost2022 G

E2F7

5-0018-003

chr12:
77444385-77444385

A

G

exonic

De novo

nonsynonymous SNV

NM_203394

c.T509C

p.I170T

25.0

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

E2F7

5-5171-003

chr12:
77427327-77427327

C

G

intronic

De novo

-

Trost2022 G

E2F7

AU075703

chr12:
78179778-78179778

A

G

intergenic

De novo

-

Yuen2017 G

E2F7

1-0019-004

chr12:
78055289-78055289

C

T

intergenic

De novo

-

Yuen2017 G

E2F7

5-0146-003

chr12:
78172628-78172628

A

G

intergenic

De novo

-

Yuen2017 G

E2F7

3-0169-000

chr12:
78042637-78042637

C

G

intergenic

De novo

-

Yuen2016 G

E2F7

AU3645301

chr12:
77579088-77579088

A

G

intergenic

De novo

-

Yuen2017 G

E2F7

AU4479301

chr12:
78005680-78005680

A

T

intergenic

De novo

-

Yuen2017 G

E2F7

7-0055-003

chr12:
77771157-77771157

C

T

intergenic

De novo

-

Yuen2017 G

E2F7

1-0973-003

chr12:
77562301-77562301

G

C

intergenic

De novo

-

Yuen2017 G

E2F7

AU063004

chr12:
78146996-78146996

C

T

intergenic

De novo

-

Yuen2017 G

E2F7

2-1357-004

chr12:
77882238-77882238

G

A

intergenic

De novo

-

Yuen2017 G

E2F7

AU063004

chr12:
78148021-78148022

GC

G

intergenic

De novo

-

Yuen2017 G

E2F7

1-0259-005

chr12:
77553380-77553380

G

A

intergenic

De novo

-

Yuen2017 G

E2F7

1-0569-003

chr12:
78217038-78217053

CAGAGAGAGAGAGAGA

CAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

E2F7

AU063004

chr12:
78149847-78149847

G

A

intergenic

De novo

-

Yuen2017 G

E2F7

11002.p1

chr12:
78047980-78047980

T

C

intergenic

De novo

-

Turner2016 G

E2F7

AU2108302

chr12:
77990864-77990864

T

G

intergenic

De novo

-

Yuen2017 G

E2F7

11417.p1

chr12:
77440061-77440061

G

A

exonic

Mosaic, De novo

synonymous SNV

NM_203394

c.C586T

p.L196L

-

Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

E2F7

74-0265

Complex Event; expand row to view variants

De novo

-

Michaelson2012 G
Michaelson2012 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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