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Results for "GATA4"

Variant Events: 12

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     1-0303-004chr8:
11597278-11597278
AAGCTTCTGTCGTGTGCintronicDe novo--Yuen2017 G
GATA4     1-0104-003chr8:
11534248-11534248
GAupstreamDe novo--Yuen2017 G
GATA4     2-0305-004chr8:
11601793-11601793
ATintronicDe novo--Yuen2017 G
GATA4     14336.p1chr8:
11607635-11607635
GAexonicDe novononsynonymous SNVNM_001308093
NM_001308094
NM_002052
c.G802A
c.G181A
c.G799A
p.V268M
p.V61M
p.V267M
21.13.0E-4Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
GATA4     AU3760302chr8:
11615257-11615257
GAintronicDe novo--Yuen2017 G
GATA4     TAS_F3074Ychr8:
11614568-11614568
CTexonicDe novosynonymous SNVNM_001308093
NM_001308094
NM_002052
c.C1125T
c.C504T
c.C1122T
p.Y375Y
p.Y168Y
p.Y374Y
-1.0E-4Satterstrom2020 E
GATA4     DEASD_0136_001chr8:
11606467-11606467
ACexonicDe novononsynonymous SNVNM_001308093
NM_001308094
NM_002052
c.A659C
c.A38C
c.A656C
p.N220T
p.N13T
p.N219T
27.6-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
GATA4     AU3891303chr8:
11612685-11612685
GTintronicDe novo--Yuen2017 G
GATA4     1-0991-003chr8:
11533689-11533689
GAupstreamDe novo--Yuen2017 G
GATA4     2-0149-003chr8:
11597278-11597278
AAGCTTCTGTCGTGTGCintronicDe novo--Yuen2017 G
GATA4     2-0238-004chr8:
11554474-11554474
TCintronicDe novo--Yuen2017 G
GATA4     AU005213chr8:
11571390-11571390
CTintronicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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