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Results for "IKZF1"

Variant Events: 9

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
IKZF1     13069.p1chr7:
50460221-50460221
CAintronicDe novo--Turner2016 G
IKZF1     1-0193-003chr7:
50472096-50472096
TGUTR3De novo--Yuen2017 G
IKZF1     1-0324-003chr7:
50359913-50359913
GAintronicDe novo--Yuen2017 G
IKZF1     1-0763-004chr7:
50415103-50415103
GAintronicDe novo--Yuen2017 G
IKZF1     2-0036-003chr7:
50460370-50460370
GAintronicDe novo--Yuen2016 G
IKZF1     2-0016-003chr7:
50460370-50460370
GAintronicDe novo--Yuen2017 G
IKZF1     AU3122301chr7:
50503957-50503959
CTTCintergenicDe novo--Yuen2017 G
IKZF1     09C83070chr7:
50467738-50467738
GCexonicDe novononsynonymous SNVNM_001291840
NM_001220771
NM_001291843
NM_001291844
NM_001220768
NM_001220770
NM_001291841
NM_001291842
NM_001220767
NM_001291839
NM_001220765
NM_001291837
NM_001291838
NM_006060
c.G283C
c.G544C
c.G418C
c.G388C
c.G712C
c.G556C
c.G544C
c.G514C
c.G682C
c.G586C
c.G847C
c.G847C
c.G712C
c.G973C
p.E95Q
p.E182Q
p.E140Q
p.E130Q
p.E238Q
p.E186Q
p.E182Q
p.E172Q
p.E228Q
p.E196Q
p.E283Q
p.E283Q
p.E238Q
p.E325Q
26.8-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
IKZF1     AU063004chr7:
50460248-50460248
AGintronicDe 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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