Variant Results

or

Results for "IKZF1"

Variant Events: 17

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

2-0307-004

chr7:
50473268-50473271

AAAA

CACCGCG

downstream

De novo

-

Trost2022 G

IKZF1

2-0307-004

chr7:
50473274-50473276

ATT

CGGCC

downstream

De novo

-

Trost2022 G

IKZF1

13069.p1

chr7:
50460221-50460221

C

A

intronic

De novo

-

Turner2016 G

IKZF1

1-1124-003

chr7:
50432940-50432940

A

G

intronic

De novo

-

Trost2022 G

IKZF1

4-0077-003

chr7:
50473268-50473271

AAAA

CACCGCG

downstream

De novo

-

Trost2022 G

IKZF1

MT_166.3

chr7:
50350865-50350865

T

C

intronic

De novo

-

Trost2022 G

IKZF1

2-0036-003

chr7:
50460370-50460370

G

A

intronic

De novo

-

Yuen2016 G

IKZF1

AU3122301

chr7:
50503957-50503959

CTT

C

intergenic

De novo

-

Yuen2017 G

IKZF1

4-0069-003

chr7:
50508803-50508804

CT

AA

intergenic

De novo

-

Trost2022 G

IKZF1

4-0077-003

chr7:
50473274-50473276

ATT

CGGCC

downstream

De novo

-

Trost2022 G

IKZF1

09C83070

chr7:
50467738-50467738

G

C

exonic

De novo

nonsynonymous SNV

NM_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
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

IKZF1

AU063004

chr7:
50460248-50460248

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

IKZF1

1-1159-004

chr7:
50506155-50506155

G

C

intergenic

De novo

-

Trost2022 G

IKZF1

1-0193-003

chr7:
50472096-50472096

T

G

UTR3

De novo

-

Trost2022 G
Yuen2017 G

IKZF1

1-0324-003

chr7:
50359913-50359913

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

IKZF1

1-0763-004

chr7:
50415103-50415103

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

IKZF1

2-0016-003

chr7:
50460370-50460370

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 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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