Variant Results

or

Results for "ARID1B"

Variant Events: 88

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

ARID1B

AU0901302

chr6:
157256598-157256598

A

G

splicing

De novo

splicing

17.61

8.238E-6

Stessman2017 T

ARID1B

4B705

chr6:
157527706-157527706

G

T

exonic

De novo

stopgain

NM_017519
NM_020732

c.G5392T
c.G5431T

p.E1798X
p.E1811X

42.0

-

Fu2022 E
Satterstrom2020 E

ARID1B

AU144A

chr6:
157488271-157488271

C

T

exonic

De novo

stopgain

NM_017519
NM_020732

c.C2938T
c.C2977T

p.Q980X
p.Q993X

38.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

ARID1B

NDAR_INVPC670BF4_wes1

chr6:
157488314-157488314

C

A

exonic

De novo

stopgain

NM_017519
NM_020732

c.C2981A
c.C3020A

p.S994X
p.S1007X

38.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

ARID1B

Codina-Sola2015:ASD_33

chr6:
157406015-157406015

C

T

exonic

Paternal

nonsynonymous SNV

NM_017519
NM_020732

c.C2218T
c.C2257T

p.P740S
p.P753S

27.7

-

Codina-Sola2015 E

ARID1B

10C106241

chr6:
157527390-157527390

C

CG

exonic

De novo

frameshift insertion

NM_017519
NM_020732

c.5076_5077insG
c.5115_5116insG

p.D1692fs
p.D1705fs

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

ARID1B

1-0274-003

chr6:
157397674-157397674

C

CCT

intronic

De novo

-

Yuen2017 G

ARID1B

DEASD_0171_001

chr6:
157528178-157528178

A

G

exonic

De novo

nonsynonymous SNV

NM_017519
NM_020732

c.A5864G
c.A5903G

p.H1955R
p.H1968R

14.93

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

ARID1B

1-0971-003

chr6:
157250854-157250854

C

A

intronic

De novo

-

Yuen2017 G

ARID1B

09C90171

chr6:
157522599-157522599

G

A

exonic

Unknown

nonsynonymous SNV

NM_017519
NM_020732

c.G4832A
c.G4871A

p.R1611Q
p.R1624Q

18.98

1.878E-5

Stessman2017 T

ARID1B

7-0223-003

chr6:
157224302-157224309

ATTAGTTA

ATTA

intronic

De novo

-

Yuen2017 G

ARID1B

M30880

chr6:
157502187-157502187

G

A

exonic

Maternal

nonsynonymous SNV

NM_017519
NM_020732

c.G3181A
c.G3220A

p.D1061N
p.D1074N

36.0

8.249E-6

Guo2018 T

ARID1B

GX0170.p1

chr6:
157405814-157405814

G

A

exonic

Maternal

nonsynonymous SNV

NM_017519
NM_020732

c.G2017A
c.G2056A

p.D673N
p.D686N

31.0

-

Guo2018 T

ARID1B

E5J5M

chr6:
157454333-157454333

G

T

exonic

Unknown

nonsynonymous SNV

NM_017519
NM_020732

c.G2504T
c.G2543T

p.G835V
p.G848V

27.8

8.987E-6

Stessman2017 T

ARID1B

AU075207

chr6:
157271683-157271683

G

A

intronic

De novo

-

Yuen2017 G

ARID1B

14640.p1

chr6:
157100567-157100568

AG

A

exonic

De novo

frameshift deletion

NM_017519
NM_020732

c.1505delG
c.1505delG

p.S502fs
p.S502fs

-

Turner2017 G
Wilfert2021 G

ARID1B

2-1466-003

chr6:
157467784-157467798

GCACACACACACACA

GCACACACACACA

intronic

De novo

-

Yuen2017 G

ARID1B

G01-GEA-53-HI

chr6:
157528630-157528630

G

A

exonic

De novo

nonsynonymous SNV

NM_017519
NM_020732

c.G6316A
c.G6355A

p.V2106I
p.V2119I

13.51

2.472E-5

Fu2022 E
Lim2017 E
Satterstrom2020 E

ARID1B

AU2458303

chr6:
157633248-157633248

G

A

intergenic

De novo

-

Yuen2017 G

ARID1B

1-0300-003

chr6:
157691364-157691364

T

A

intergenic

De novo

-

Yuen2017 G

ARID1B

80001101245

chr6:
157517445-157517445

C

T

exonic

De novo

stopgain

NM_017519
NM_020732

c.C3970T
c.C4009T

p.R1324X
p.R1337X

43.0

-

Satterstrom2020 E

ARID1B

AU060803

chr6:
157228765-157228765

C

T

intronic

De novo

-

Yuen2017 G

ARID1B

Q6R5C

chr6:
157510782-157510782

C

T

exonic

Unknown

nonsynonymous SNV

NM_017519
NM_020732

c.C3518T
c.C3557T

p.S1173L
p.S1186L

22.7

-

Stessman2017 T

ARID1B

M04133

chr6:
157522160-157522161

AG

A

exonic

Unknown

frameshift deletion

NM_017519
NM_020732

c.4394delG
c.4433delG

p.R1465fs
p.R1478fs

-

Guo2018 T
Wang2016 T

ARID1B

AU053503

chr6:
157521885-157521885

G

T

exonic

Unknown

nonsynonymous SNV

NM_017519
NM_020732

c.G4118T
c.G4157T

p.R1373L
p.R1386L

18.25

-

Stessman2017 T

ARID1B

14393.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_017519
NM_020732
NM_017519
NM_020732

c.3542dupC
c.3581dupC
c.3543dupC
c.3582dupC

p.T1181fs
p.T1194fs
p.T1181fs
p.T1194fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
Satterstrom2020 E
Wilfert2021 G

ARID1B

14406.p1

chr6:
157525120-157525120

A

G

exonic

De novo

nonsynonymous SNV

NM_017519
NM_020732

c.A4976G
c.A5015G

p.N1659S
p.N1672S

11.76

7.0E-4

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Wilfert2021 G

ARID1B

Hu2022:70

chr6:
157521844-157521844

C

A

exonic

De novo

stopgain

NM_017519
NM_020732

c.C4077A
c.C4116A

p.Y1359X
p.Y1372X

42.0

-

Hu2022 T

ARID1B

AU4067303

chr6:
157426082-157426082

C

G

intronic

De novo

-

Yuen2017 G

ARID1B

SSC12582

chr6:
157100567-157100568

AG

A

exonic

frameshift deletion

NM_017519
NM_020732

c.1505delG
c.1505delG

p.S502fs
p.S502fs

-

Antaki2022 GE

ARID1B

160759

chr6:
157527732-157527732

G

A

exonic

De novo

stopgain

NM_017519
NM_020732

c.G5418A
c.G5457A

p.W1806X
p.W1819X

44.0

-

Fu2022 E

ARID1B

13447_p1

chr6:
157527664-157527668

CTGTT

C

exonic

De novo

frameshift deletion

NM_017519
NM_020732

c.5351_5354del
c.5390_5393del

p.L1784fs
p.L1797fs

-

Fu2022 E

ARID1B

1-0052-003

chr6:
157539412-157539412

T

TGTGCAGATGACAGGGCCAGCGTTGGGAGGGGCC

intergenic

De novo

-

Yuen2017 G

ARID1B

Alvarez-Mora2016:ASD-2

chr6:
157099799-157099799

G

A

exonic

Paternal

nonsynonymous SNV

NM_017519
NM_020732

c.G736A
c.G736A

p.G246S
p.G246S

10.85

0.0042

Alvarez-Mora2016 T

ARID1B

2-0503-004

chr6:
157691382-157691382

C

CCAA

intergenic

De novo

-

Yuen2017 G

ARID1B

AU045512

chr6:
157385531-157385531

A

G

intronic

De novo

-

Yuen2017 G

ARID1B

1-0436-003

chr6:
157494804-157494804

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ARID1B

160708

chr6:
157406028-157406028

C

T

exonic

De novo

nonsynonymous SNV

NM_017519
NM_020732

c.C2231T
c.C2270T

p.A744V
p.A757V

31.0

-

Fu2022 E
Satterstrom2020 E

ARID1B

2-1485-003

chr6:
157700064-157700064

G

A

intergenic

De novo

-

Yuen2017 G

ARID1B

SSC07458

chr6:
157527664-157527668

CTGTT

C

exonic

frameshift deletion

NM_017519
NM_020732

c.5351_5354del
c.5390_5393del

p.L1784fs
p.L1797fs

-

Antaki2022 GE

ARID1B

AN16641

chr6:
157522004-157522004

C

T

exonic

Unknown

nonsynonymous SNV

NM_017519
NM_020732

c.C4237T
c.C4276T

p.P1413S
p.P1426S

13.33

-

D’Gama2015 T

ARID1B

AN17515

chr6:
157100526-157100526

C

G

exonic

Unknown

nonsynonymous SNV

NM_017519
NM_020732

c.C1463G
c.C1463G

p.P488R
p.P488R

12.1

1.0E-4

D’Gama2015 T

ARID1B

AU3903301

chr6:
157405903-157405903

G

A

exonic

De novo

synonymous SNV

NM_017519
NM_020732

c.G2106A
c.G2145A

p.P702P
p.P715P

-

5.766E-5

Yuen2017 G

ARID1B

SSC11660

chr6:
157510805-157510805

A

AC

exonic

frameshift insertion

NM_017519
NM_020732

c.3542dupC
c.3581dupC

p.T1181fs
p.T1194fs

-

Antaki2022 GE

ARID1B

A140275

chr6:
157100600-157100600

T

C

exonic

De novo

nonsynonymous SNV

NM_017519
NM_020732

c.T1537C
c.T1537C

p.S513P
p.S513P

14.12

-

Fu2022 E

ARID1B

SP0113505

chr6:
157505488-157505488

G

A

exonic

De novo

nonsynonymous SNV

NM_017519
NM_020732

c.G3430A
c.G3469A

p.E1144K
p.E1157K

22.9

-

Antaki2022 GE
Fu2022 E

ARID1B

150163

chr6:
157502187-157502187

G

A

exonic

De novo

nonsynonymous SNV

NM_017519
NM_020732

c.G3181A
c.G3220A

p.D1061N
p.D1074N

36.0

8.249E-6

Fu2022 E

ARID1B

5-0110-003

chr6:
157234912-157234914

TCC

T

intronic

De novo

-

Yuen2017 G

ARID1B

SP0020053

chr6:
157522277-157522278

AG

A

exonic

De novo

frameshift deletion

NM_017519
NM_020732

c.4511delG
c.4550delG

p.S1504fs
p.S1517fs

-

Antaki2022 GE
Fu2022 E

ARID1B

SP0080918

chr6:
157510913-157510914

AG

A

exonic

De novo

frameshift deletion

NM_017519
NM_020732

c.3650delG
c.3689delG

p.R1217fs
p.R1230fs

-

Antaki2022 GE
Fu2022 E

ARID1B

DEASD_2151_001

chr6:
157431700-157431700

G

A

intronic

De novo

-

Fu2022 E

ARID1B

Lo2022:6

chr6:
157525120-157525120

A

G

exonic

Unknown

nonsynonymous SNV

NM_017519
NM_020732

c.A4976G
c.A5015G

p.N1659S
p.N1672S

11.76

7.0E-4

Lo2022 T

ARID1B

Alvarez-Mora2016:ASD-44

chr6:
157099185-157099185

C

T

exonic

Paternal

nonsynonymous SNV

NM_017519
NM_020732

c.C122T
c.C122T

p.S41F
p.S41F

9.383

-

Alvarez-Mora2016 T

ARID1B

Lo2022:5

chr6:
157522274-157522274

G

A

exonic

Unknown

nonsynonymous SNV

NM_017519
NM_020732

c.G4507A
c.G4546A

p.V1503I
p.V1516I

16.29

1.0E-4

Lo2022 T

ARID1B

Lo2022:8

chr6:
157528049-157528049

G

A

exonic

Unknown

nonsynonymous SNV

NM_017519
NM_020732

c.G5735A
c.G5774A

p.S1912N
p.S1925N

20.2

-

Lo2022 T

ARID1B

Lo2022:7

chr6:
157527680-157527680

G

A

exonic

Paternal

nonsynonymous SNV

NM_017519
NM_020732

c.G5366A
c.G5405A

p.R1789Q
p.R1802Q

10.53

1.649E-5

Lo2022 T

ARID1B

SP0022099

chr6:
157528565-157528565

A

C

exonic

De novo

nonsynonymous SNV

NM_017519
NM_020732

c.A6251C
c.A6290C

p.D2084A
p.D2097A

13.45

-

Feliciano2019 E
Fu2022 E

ARID1B

Lo2022:2

chr6:
157502199-157502199

A

T

exonic

Paternal

nonsynonymous SNV

NM_017519
NM_020732

c.A3193T
c.A3232T

p.T1065S
p.T1078S

11.55

2.473E-5

Lo2022 T

ARID1B

Lo2022:1

chr6:
157405967-157405967

C

T

exonic

Unknown

nonsynonymous SNV

NM_017519
NM_020732

c.C2170T
c.C2209T

p.P724S
p.P737S

22.0

9.063E-5

Lo2022 T

ARID1B

Lo2022:4

chr6:
157522073-157522073

G

A

exonic

Unknown

nonsynonymous SNV

NM_017519
NM_020732

c.G4306A
c.G4345A

p.G1436S
p.G1449S

14.73

9.185E-5

Lo2022 T

ARID1B

2-1629-003

chr6:
157437530-157437530

A

G

intronic

De novo

-

Yuen2017 G

ARID1B

Alvarez-Mora2016:ASD-35

chr6:
157099799-157099799

G

A

exonic

Unknown

nonsynonymous SNV

NM_017519
NM_020732

c.G736A
c.G736A

p.G246S
p.G246S

10.85

0.0042

Alvarez-Mora2016 T

ARID1B

Lo2022:3

chr6:
157517313-157517313

G

A

exonic

Unknown

nonsynonymous SNV

NM_017519
NM_020732

c.G3838A
c.G3877A

p.E1280K
p.E1293K

22.5

8.239E-6

Lo2022 T

ARID1B

1-0191-004

chr6:
157700058-157700058

G

A

intergenic

De novo

-

Yuen2017 G

ARID1B

13447.p1

chr6:
157527664-157527668

CTGTT

C

exonic

De novo

frameshift deletion

NM_017519
NM_020732

c.5351_5354del
c.5390_5393del

p.L1784fs
p.L1797fs

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E

ARID1B

AU4237304

chr6:
157538185-157538185

C

A

intergenic

De novo

-

Yuen2017 G

ARID1B

Alvarez-Mora2016:ASD-57

chr6:
157099799-157099799

G

A

exonic

Paternal

nonsynonymous SNV

NM_017519
NM_020732

c.G736A
c.G736A

p.G246S
p.G246S

10.85

0.0042

Alvarez-Mora2016 T

ARID1B

2-1186-003

chr6:
157459100-157459100

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ARID1B

SP0073804

chr6:
157502298-157502298

G

A

exonic

De novo

nonsynonymous SNV

NM_017519
NM_020732

c.G3292A
c.G3331A

p.G1098R
p.G1111R

32.0

-

Fu2022 E

ARID1B

SP0078568

chr6:
157502260-157502260

T

C

exonic

De novo

nonsynonymous SNV

NM_017519
NM_020732

c.T3254C
c.T3293C

p.L1085P
p.L1098P

26.2

-

Fu2022 E

ARID1B

309833

chr6:
157517313-157517313

G

A

exonic

Unknown

nonsynonymous SNV

NM_017519
NM_020732

c.G3838A
c.G3877A

p.E1280K
p.E1293K

22.5

8.239E-6

Stessman2017 T

ARID1B

SP0081207

chr6:
157528343-157528343

A

ACACGTTGGT

exonic

De novo

nonframeshift insertion

NM_017519
NM_020732

c.6029_6030insCACGTTGGT
c.6068_6069insCACGTTGGT

p.N2010delinsNTLV
p.N2023delinsNTLV

-

Fu2022 E

ARID1B

SP0043398

chr6:
157527417-157527417

C

A

exonic

De novo

nonsynonymous SNV

NM_017519
NM_020732

c.C5103A
c.C5142A

p.N1701K
p.N1714K

0.165

-

Fu2022 E

ARID1B

SP0010628

chr6:
157528862-157528862

G

A

exonic

De novo

nonsynonymous SNV

NM_017519
NM_020732

c.G6548A
c.G6587A

p.C2183Y
p.C2196Y

14.51

-

Fu2022 E

ARID1B

330872

chr6:
157502272-157502272

G

A

exonic

Unknown

nonsynonymous SNV

NM_017519
NM_020732

c.G3266A
c.G3305A

p.R1089Q
p.R1102Q

35.0

1.65E-5

Stessman2017 T

ARID1B

2-0090-003

chr6:
157150547-157150547

C

T

exonic

De novo

stopgain

NM_017519
NM_020732

c.C1729T
c.C1729T

p.Q577X
p.Q577X

41.0

-

Yuen2017 G

ARID1B

SP0133348

chr6:
157517257-157517257

C

T

intronic

De novo

-

Fu2022 E

ARID1B

2-0214-003

chr6:
157691414-157691414

T

A

intergenic

De novo

-

Yuen2017 G

ARID1B

5-0103-003

chr6:
157550661-157550661

C

T

intergenic

De novo

-

Yuen2017 G

ARID1B

Mahjani2021:128

chr6:
157517445-157517445

C

T

exonic

stopgain

NM_017519
NM_020732

c.C3970T
c.C4009T

p.R1324X
p.R1337X

43.0

-

Mahjani2021 E

ARID1B

2-0289-003

chr6:
157691358-157691358

A

ACCACC

intergenic

De novo

-

Yuen2017 G

ARID1B

12630.p1

chr6:
157437787-157437787

C

G

intronic

De novo

-

Wilfert2021 G

ARID1B

Ishay2021:5

chr6:
157405978-157405980

TGG

T

exonic

De novo

frameshift deletion

NM_017519
NM_020732

c.2182_2183del
c.2221_2222del

p.G728fs
p.G741fs

-

Ishay2021 E

ARID1B

14633.p1

chr6:
157296103-157296103

A

G

intronic

De novo

-

Wilfert2021 G

ARID1B

iHART1912

chr6:
157454160-157454160

A

C

splicing

Paternal

splicing

21.0

-

Ruzzo2019 G

ARID1B

220-9856-201

chr6:
157488271-157488271

C

T

exonic

De novo

stopgain

NM_017519
NM_020732

c.C2938T
c.C2977T

p.Q980X
p.Q993X

38.0

-

Stessman2017 T
Stessman2017 T

ARID1B

1-0290-003

chr6:
157691382-157691382

C

CCAA

intergenic

De novo

-

Yuen2017 G

ARID1B

iHART1910

chr6:
157454160-157454160

A

C

splicing

Paternal

splicing

21.0

-

Ruzzo2019 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
	More