Variant Results

or

Results for "ARID2"

Variant Events: 47

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

ARID2

2-1306-004

chr12:
46177113-46177118

TATATC

T

intronic

De novo

-

Yuen2017 G

ARID2

2-0296-004

chr12:
46163990-46163990

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARID2

Wang2023:465

chr12:
46298749-46298749

T

TGCTA

exonic

De novo

frameshift insertion

NM_152641

c.5396_5397insGCTA

p.V1799fs

-

Wang2023 E

ARID2

ACGC_SD0201.p1

chr12:
46246296-46246296

C

T

exonic

Paternal

nonsynonymous SNV

NM_152641

c.C4390T

p.R1464C

17.89

6.591E-5

Wang2020 T

ARID2

CC1262_201

chr12:
46230680-46230680

G

A

exonic

De novo

nonsynonymous SNV

NM_152641

c.G929A

p.R310H

32.0

-

Fu2022 E

ARID2

12910.p1

chr12:
46230691-46230691

C

T

exonic

Unknown, Mosaic, De novo

nonsynonymous SNV

NM_152641

c.C940T

p.R314C

27.1

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
Zhou2022 GE

ARID2

2-1379-003

chr12:
46233500-46233500

T

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ARID2

2-1379-003

chr12:
46233502-46233502

C

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ARID2

2-1306-003

chr12:
46177113-46177118

TATATC

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARID2

AU2221301

chr12:
46253065-46253065

C

T

intronic

De novo

-

Trost2022 G

ARID2

MSSNG00359-003

chr12:
46262666-46262666

C

T

intronic

De novo

-

Trost2022 G

ARID2

1-0567-004

chr12:
46189441-46189441

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARID2

2-1196-003

chr12:
46139659-46139659

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARID2

AM01ZF-04

chr12:
46197062-46197063

TC

T

intronic

De novo

-

Trost2022 G

ARID2

1885-23669

chr12:
46231491-46231491

G

A

splicing

De novo

splicing

15.3

-

Callaghan2019 G

ARID2

2-1291-003

chr12:
46162961-46162961

C

G

intronic

De novo

-

Yuen2016 G

ARID2

MSSNG00256-005

chr12:
46231438-46231438

G

A

exonic

De novo

synonymous SNV

NM_152641

c.G1278A

p.T426T

-

4.949E-5

Trost2022 G

ARID2

1-0534-004

chr12:
46174636-46174640

CAGGC

TGT

intronic

De novo

-

Trost2022 G

ARID2

7-0311-003

chr12:
46175875-46175875

T

A

intronic

De novo

-

Trost2022 G

ARID2

4-0095-003

chr12:
46164292-46164292

G

A

intronic

De novo

-

Trost2022 G

ARID2

1-0259-005

chr12:
46174602-46174603

TA

CG

intronic

De novo

-

Trost2022 G

ARID2

SF0016143.p1

chr12:
46285676-46285676

G

A

exonic

nonsynonymous SNV

NM_152641

c.G5036A

p.R1679Q

34.0

8.237E-6

Wang2020 T

ARID2

AU4033303

chr12:
46221130-46221130

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARID2

1-0338-005

chr12:
46174655-46174655

A

G

intronic

De novo

-

Yuen2017 G

ARID2

SP0227064

chr12:
46285774-46285774

G

A

intronic

De novo

-

Trost2022 G

ARID2

4-0062-003

chr12:
46267867-46267867

A

AAGG

intronic

De novo

-

Trost2022 G

ARID2

3-0346-000

chr12:
46279725-46279725

G

A

intronic

De novo

-

Trost2022 G

ARID2

AU3125301

chr12:
46125223-46125223

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARID2

SanDiego_F6X5X

chr12:
46285873-46285873

C

T

exonic

Unknown

nonsynonymous SNV

NM_152641

c.C5141T

p.S1714F

24.2

1.782E-5

Wang2020 T

ARID2

1-0565-004

chr12:
46311757-46311760

TATG

T

intergenic

De novo

-

Yuen2017 G

ARID2

SP0016143

chr12:
46285676-46285676

G

A

exonic

De novo

nonsynonymous SNV

NM_152641

c.G5036A

p.R1679Q

34.0

8.237E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

ARID2

MSSNG00224-003

chr12:
46211659-46211659

G

A

exonic

De novo

nonsynonymous SNV

NM_152641

c.G625A

p.V209M

25.2

-

Trost2022 G
Zhou2022 GE

ARID2

SP0052047

chr12:
46230498-46230498

A

G

intronic

De novo

-

Fu2022 E
Trost2022 G

ARID2

3-0782-000

chr12:
46244702-46244702

A

G

exonic

De novo

synonymous SNV

NM_152641

c.A2796G

p.P932P

-

Trost2022 G
Zhou2022 GE

ARID2

1-0045-003

chr12:
46174588-46174588

T

A

intronic

De novo

-

Yuen2017 G

ARID2

SSC05756

chr12:
46230691-46230691

C

T

exonic

De novo

nonsynonymous SNV

NM_152641

c.C940T

p.R314C

27.1

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

ARID2

9190771

chr12:
46242758-46242758

G

T

intronic

De novo

-

Fu2022 E

ARID2

Iowa_165_1_a.2.1

chr12:
46205243-46205243

T

G

exonic

Unknown

nonsynonymous SNV

NM_152641

c.T327G

p.D109E

14.12

-

Wang2020 T

ARID2

Gecz2_32575

chr12:
46205243-46205243

T

G

exonic

Unknown

nonsynonymous SNV

NM_152641

c.T327G

p.D109E

14.12

-

Wang2020 T

ARID2

7-0175-003

chr12:
46188980-46188980

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARID2

AU2458302

chr12:
46238501-46238501

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARID2

Iowa_165_2_a.2.1

chr12:
46205243-46205243

T

G

exonic

Unknown

nonsynonymous SNV

NM_152641

c.T327G

p.D109E

14.12

-

Wang2020 T

ARID2

1-0640-003

chr12:
46155152-46155152

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARID2

Hu2022:23

chr12:
46244889-46244889

C

T

exonic

De novo

stopgain

NM_152641

c.C2983T

p.Q995X

39.0

-

Hu2022 T

ARID2

1-0382-004

chr12:
46310353-46310353

C

T

intergenic

De novo

-

Yuen2017 G

ARID2

AU4150301

chr12:
46150948-46150948

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARID2

Leuven_245150

chr12:
46244283-46244283

C

T

exonic

De novo

stopgain

NM_152641

c.C2377T

p.Q793X

41.0

-

Wang2020 T

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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