Variant Results

or

Results for "IKZF2"

Variant Events: 92

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

IKZF2

PN400383

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

1-0464-003

chr2:
214048619-214048619

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

IKZF2

PN400253

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

68631

chr2:
213886838-213886838

C

G

exonic

De novo

nonsynonymous SNV

NM_016260
NM_001079526

c.G591C
c.G513C

p.K197N
p.K171N

21.1

-

Fu2022 E
Trost2022 G

IKZF2

AU4264302

chr2:
214016440-214016440

G

GGCGGCGGCT

upstream

De novo

-

Trost2022 G

IKZF2

PN400313

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

2-1374-003

chr2:
213977124-213977124

C

T

intronic

De novo

-

Trost2022 G

IKZF2

PN400579

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

REACH000089

chr2:
213987564-213987564

G

A

intronic

De novo

-

Trost2022 G

IKZF2

PN400367

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400565

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400557

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400209

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400543

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

AU3728301

chr2:
214077835-214077835

G

C

intergenic

De novo

-

Yuen2017 G

IKZF2

7-0095-003

chr2:
213939917-213939917

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

IKZF2

1-0339-003

chr2:
214012814-214012819

ACTTTT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

IKZF2

AU3760302

chr2:
214014700-214014700

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

IKZF2

PN400359

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

2-0132-004

chr2:
213799088-213799088

C

A

intergenic

De novo

-

Yuen2017 G

IKZF2

PN400104

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400266

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400171

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

AU3646301

chr2:
213998341-213998341

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

IKZF2

PN400474

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400125

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400195

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

AU038204

chr2:
213907626-213907626

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

IKZF2

Lim2017:68631

chr2:
213886838-213886838

C

G

exonic

De novo

nonsynonymous SNV

NM_016260
NM_001079526

c.G591C
c.G513C

p.K197N
p.K171N

21.1

-

Lim2017 E

IKZF2

PN400375

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

AU3646301

chr2:
214008729-214008729

G

C

intronic

De novo

-

Yuen2017 G

IKZF2

PN400581

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400285

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400341

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400512

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400277

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400539

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

5-0105-003

chr2:
214057362-214057362

A

T

intergenic

De novo

-

Yuen2017 G

IKZF2

PN400157

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400128

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400186

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400361

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400527

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400108

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400240

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400544

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400412

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

1-0405-003

chr2:
214071012-214071012

C

G

intergenic

De novo

-

Yuen2017 G

IKZF2

PN400476

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400230

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

1-0279-004

chr2:
214090622-214090622

A

G

intergenic

De novo

-

Yuen2017 G

IKZF2

AU072504

chr2:
214089584-214089584

G

A

intergenic

De novo

-

Yuen2017 G

IKZF2

AU3635301

chr2:
214073985-214073985

C

T

intergenic

De novo

-

Yuen2017 G

IKZF2

PN400379

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400575

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400119

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400178

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400127

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400506

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400554

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400279

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400489

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400297

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400528

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400521

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400257

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400283

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400166

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400231

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400576

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

2-1093-009

chr2:
214035311-214035311

G

A

intergenic

De novo

-

Yuen2017 G

IKZF2

PN400515

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

1-0139-005

chr2:
213972343-213972343

T

TA

intronic

De novo

-

Yuen2017 G

IKZF2

PN400542

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400534

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

13874.p1

chr2:
214115855-214115855

C

A

intergenic

De novo

-

Turner2016 G

IKZF2

PN400416

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

11456.p1

chr2:
214096539-214096539

G

A

intergenic

De novo

-

Turner2016 G

IKZF2

PN400259

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

REACH000202

chr2:
213957494-213957494

A

G

intronic

De novo

-

Trost2022 G

IKZF2

3-0866-000

chr2:
213973855-213973855

A

G

intronic

De novo

-

Trost2022 G

IKZF2

11577.p1

chr2:
213886838-213886838

C

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_016260
NM_001079526

c.G591C
c.G513C

p.K197N
p.K171N

21.1

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

IKZF2

5-0076-003

chr2:
213931386-213931386

C

T

intronic

De novo

-

Trost2022 G

IKZF2

PN400587

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

MSSNG00368-004

chr2:
213933593-213933593

T

G

intronic

De novo

-

Trost2022 G

IKZF2

PN400246

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400284

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

5-5001-003

chr2:
213896413-213896413

A

G

intronic

De novo

-

Trost2022 G

IKZF2

1-1129-003

chr2:
213925921-213925921

C

T

intronic

De novo

-

Trost2022 G

IKZF2

PN400117

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

PN400219

chr2:
214012403-214012405

CAA

C

intronic

Unknown

-

0.2884

Leblond2019 E

IKZF2

MT_168.3

chr2:
213882902-213882902

C

T

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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