Variant Results

or

Results for "GATA4"

Variant Events: 22

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

GATA4

1-0303-004

chr8:
11597278-11597278

A

AGCTTCTGTCGTGTGC

intronic

De novo

-

Yuen2017 G

GATA4

1-0104-003

chr8:
11534248-11534248

G

A

upstream

De novo

-

Trost2022 G
Yuen2017 G

GATA4

2-0305-004

chr8:
11601793-11601793

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GATA4

14336.p1

chr8:
11607635-11607635

G

A

exonic

De novo

nonsynonymous SNV

NM_001308093
NM_001308094
NM_002052

c.G802A
c.G181A
c.G799A

p.V268M
p.V61M
p.V267M

21.1

3.0E-4

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

GATA4

AU3760302

chr8:
11615257-11615257

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GATA4

TAS_F3074Y

chr8:
11614568-11614568

C

T

exonic

De novo

synonymous SNV

NM_001308093
NM_001308094
NM_002052

c.C1125T
c.C504T
c.C1122T

p.Y375Y
p.Y168Y
p.Y374Y

-

1.0E-4

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GATA4

AU3891303

chr8:
11612685-11612685

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GATA4

SP0051596

chr8:
11616047-11616047

A

G

UTR3

De novo

-

Fu2022 E

GATA4

1026

chr8:
11615817-11615817

G

A

exonic

De novo

nonsynonymous SNV

NM_001308093
NM_001308094
NM_002052

c.G1165A
c.G544A
c.G1162A

p.A389T
p.A182T
p.A388T

7.233

-

Trost2022 G
Zhou2022 GE

GATA4

AU005213

chr8:
11571390-11571390

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GATA4

SP0070035

chr8:
11606371-11606371

A

C

intronic

De novo

-

Fu2022 E

GATA4

DEASD_0136_001

chr8:
11606467-11606467

A

C

exonic

De novo

nonsynonymous SNV

NM_001308093
NM_001308094
NM_002052

c.A659C
c.A38C
c.A656C

p.N220T
p.N13T
p.N219T

27.6

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GATA4

36106

chr8:
11607635-11607635

G

A

exonic

De novo

nonsynonymous SNV

NM_001308093
NM_001308094
NM_002052

c.G802A
c.G181A
c.G799A

p.V268M
p.V61M
p.V267M

21.1

3.0E-4

Trost2022 G

GATA4

1-0991-003

chr8:
11533689-11533689

G

A

upstream

De novo

-

Trost2022 G
Yuen2017 G

GATA4

2-0149-003

chr8:
11597278-11597278

A

AGCTTCTGTCGTGTGC

intronic

De novo

-

Yuen2017 G

GATA4

2-0238-004

chr8:
11554474-11554474

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GATA4

1-0589-003

chr8:
11596552-11596552

C

T

intronic

De novo

-

Trost2022 G

GATA4

AU025704

chr8:
11604175-11604175

A

G

intronic

De novo

-

Trost2022 G

GATA4

MSSNG00024-003A

chr8:
11565514-11565514

C

T

UTR5

De novo

-

Trost2022 G

GATA4

3-0829-000

chr8:
11581202-11581202

C

A

intronic

De novo

-

Trost2022 G

GATA4

SP0136462

chr8:
11555042-11555042

C

T

intronic

De novo

-

Trost2022 G

GATA4

5-5031-003

chr8:
11558603-11558603

A

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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