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Results for "GATA6"

Variant Events: 13

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
GATA6     AU050603chr18:
19864403-19864403
GAintergenicDe novo--Yuen2017 G
GATA6     AU4149301chr18:
19966148-19966148
GAintergenicDe novo--Yuen2017 G
GATA6     2-0129-004chr18:
19931732-19931732
ACintergenicDe novo--Yuen2017 G
GATA6     2-1258-004chr18:
19855580-19855580
GTintergenicDe novo--Yuen2017 G
GATA6     1-0299-004chr18:
19838517-19838517
CTintergenicDe novo--Yuen2017 G
GATA6     1-0675-003chr18:
19847210-19847210
GAintergenicDe novo--Yuen2017 G
GATA6     2-1562-003chr18:
19768613-19768613
CCTGGAintronicDe novo--Yuen2017 G
GATA6     G01-GEA-195-HIchr18:
19762824-19762824
CTintronicDe novo-1.0E-4Satterstrom2020 E
GATA6     1-0201-005chr18:
19911239-19911239
CTintergenicDe novo--Yuen2017 G
GATA6     7-0143-003chr18:
19750143-19750143
CTintronicDe novo--Yuen2017 G
GATA6     AU017704chr18:
19753089-19753089
CTintronicDe novo--Yuen2017 G
GATA6     AU4426303chr18:
19914012-19914013
GCGintergenicDe novo--Yuen2017 G
GATA6     2-1152-003chr18:
19836747-19836747
CTintergenicDe novo--Yuen2016 G
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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