Variant Results

or

Results for "ARHGAP32"

Variant Events: 80

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

ARHGAP32

7-0242-003

chr11:
128898221-128898221

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARHGAP32

M20730

chr11:
128842449-128842449

G

A

exonic

Unknown

nonsynonymous SNV

NM_014715
NM_001142685

c.C2863T
c.C3910T

p.R955C
p.R1304C

14.03

8.975E-6

Wang2016 T

ARHGAP32

AU004017

chr11:
128839782-128839782

G

A

exonic

De novo

nonsynonymous SNV

NM_014715
NM_001142685

c.C4237T
c.C5284T

p.R1413W
p.R1762W

20.4

8.237E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ARHGAP32

220-9976-203

chr11:
129062021-129062021

G

A

exonic

Maternal

stopgain

NM_001142685

c.C73T

p.Q25X

25.7

-

Stessman2017 T

ARHGAP32

2-1426-003

chr11:
129028094-129028094

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARHGAP32

SP0068785

chr11:
128857955-128857955

G

A

exonic

De novo

nonsynonymous SNV

NM_014715
NM_001142685

c.C172T
c.C1219T

p.R58C
p.R407C

20.7

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

ARHGAP32

M16079

chr11:
128844790-128844790

G

C

exonic

Maternal

nonsynonymous SNV

NM_014715
NM_001142685

c.C1213G
c.C2260G

p.L405V
p.L754V

15.31

6.595E-5

Wang2016 T

ARHGAP32

M15093

chr11:
128840441-128840441

C

G

exonic

Maternal

nonsynonymous SNV

NM_014715
NM_001142685

c.G3578C
c.G4625C

p.R1193T
p.R1542T

12.8

-

Wang2016 T

ARHGAP32

M32041

chr11:
128839261-128839261

T

TA

exonic

Maternal

frameshift insertion

NM_014715
NM_001142685

c.4757dupT
c.5804dupT

p.L1586fs
p.L1935fs

-

Guo2018 T

ARHGAP32

SP0111761

chr11:
128840197-128840197

A

G

exonic

De novo

synonymous SNV

NM_014715
NM_001142685

c.T3822C
c.T4869C

p.Y1274Y
p.Y1623Y

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ARHGAP32

AU3702307

chr11:
128916692-128916692

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARHGAP32

SP0172698

chr11:
128868336-128868336

G

GT

exonic

De novo

frameshift insertion

NM_001142685

c.1030dupA

p.T344fs

-

Trost2022 G

ARHGAP32

AU2320301

chr11:
128871609-128871610

AT

A

intronic

De novo

-

Trost2022 G

ARHGAP32

M12374

chr11:
128844223-128844223

C

T

exonic

Paternal

nonsynonymous SNV

NM_014715
NM_001142685

c.G1780A
c.G2827A

p.V594I
p.V943I

0.003

-

Wang2016 T

ARHGAP32

MSSNG00120-003

chr11:
128850349-128850349

A

G

intronic

De novo

-

Trost2022 G

ARHGAP32

AU2320301

chr11:
128862430-128862430

G

C

intronic

De novo

-

Trost2022 G

ARHGAP32

1-1165-003

chr11:
128838642-128838642

G

C

UTR3

De novo

-

Trost2022 G

ARHGAP32

1-0654-003

chr11:
128849619-128849619

G

A

intronic

De novo

-

Trost2022 G

ARHGAP32

3-0246-000

chr11:
129214047-129214047

G

T

intergenic

De novo

-

Yuen2017 G

ARHGAP32

MSSNG00353-003

chr11:
128933356-128933356

G

GA

intronic

De novo

-

Trost2022 G

ARHGAP32

REACH000001

chr11:
128945969-128945969

A

C

intronic

De novo

-

Trost2022 G

ARHGAP32

7-0309-003

chr11:
128889674-128889674

G

A

intronic

De novo

-

Trost2022 G

ARHGAP32

2-0103-004

chr11:
128905156-128905160

GATTA

G

intronic

De novo

-

Trost2022 G

ARHGAP32

3-0752-000

chr11:
128875677-128875677

G

A

intronic

De novo

-

Trost2022 G

ARHGAP32

3-0325-000

chr11:
128877461-128877461

A

G

intronic

De novo

-

Trost2022 G

ARHGAP32

3-0208-000

chr11:
128873357-128873357

C

T

intronic

De novo

-

Trost2022 G

ARHGAP32

216-4484-1

chr11:
128842467-128842467

G

A

exonic

Unknown

nonsynonymous SNV

NM_014715
NM_001142685

c.C2845T
c.C3892T

p.R949C
p.R1298C

19.0

3.557E-5

Stessman2017 T

ARHGAP32

MSSNG00217-003

chr11:
128875529-128875529

G

A

intronic

De novo

-

Trost2022 G

ARHGAP32

M23710

chr11:
128838917-128838917

G

T

exonic

Maternal

nonsynonymous SNV

NM_014715
NM_001142685

c.C5102A
c.C6149A

p.P1701H
p.P2050H

13.85

-

Wang2016 T

ARHGAP32

1-0271-004

chr11:
129011936-129011936

T

A

intronic

De novo

-

Trost2022 G

ARHGAP32

1-0092-004

chr11:
129029386-129029391

AACTAG

A

intronic

De novo

-

Trost2022 G

ARHGAP32

1-0611-005

chr11:
128983632-128983632

C

T

intronic

De novo

-

Trost2022 G

ARHGAP32

3-0645-000

chr11:
129009608-129009608

G

A

intronic

De novo

-

Trost2022 G

ARHGAP32

5-5163-003

chr11:
128970955-128970955

G

A

intronic

De novo

-

Trost2022 G

ARHGAP32

2-0159-003

chr11:
128982498-128982501

AGTT

A

intronic

De novo

-

Trost2022 G

ARHGAP32

SJD_55.3

chr11:
128962381-128962381

A

G

intronic

De novo

-

Trost2022 G

ARHGAP32

217-14051-880

chr11:
128840405-128840405

C

T

exonic

Unknown

nonsynonymous SNV

NM_014715
NM_001142685

c.G3614A
c.G4661A

p.R1205Q
p.R1554Q

26.2

8.237E-6

Stessman2017 T

ARHGAP32

1-0458-004

chr11:
128979299-128979299

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARHGAP32

3-0072-000

chr11:
128968685-128968685

T

C

intronic

De novo

-

Trost2022 G

ARHGAP32

M11423

chr11:
128844392-128844392

C

G

exonic

Paternal

nonsynonymous SNV

NM_014715
NM_001142685

c.G1611C
c.G2658C

p.K537N
p.K886N

15.83

-

Wang2016 T

ARHGAP32

1-0551-004

chr11:
129183912-129183912

C

T

intergenic

De novo

-

Yuen2017 G

ARHGAP32

1-0092-004

chr11:
129030803-129030803

C

TACT

intronic

De novo

-

Trost2022 G

ARHGAP32

7-0023-003

chr11:
129017384-129017384

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARHGAP32

2-0014-003

chr11:
129055413-129055413

G

GTGTAT

intronic

De novo

-

Trost2022 G

ARHGAP32

A5

chr11:
129138289-129138289

C

T

intergenic

De novo

-

Wu2018 G

ARHGAP32

M23136

chr11:
128842466-128842466

C

T

exonic

Maternal

nonsynonymous SNV

NM_014715
NM_001142685

c.G2846A
c.G3893A

p.R949H
p.R1298H

19.78

2.0E-4

Wang2016 T

ARHGAP32

AU4487302

chr11:
128962448-128962448

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARHGAP32

M20600

chr11:
128842712-128842712

T

C

exonic

Maternal

nonsynonymous SNV

NM_014715
NM_001142685

c.A2600G
c.A3647G

p.Y867C
p.Y1216C

12.52

-

Wang2016 T

ARHGAP32

DEASD_1016_001

chr11:
128840384-128840384

A

C

exonic

De novo

nonsynonymous SNV

NM_014715
NM_001142685

c.T3635G
c.T4682G

p.L1212W
p.L1561W

16.41

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ARHGAP32

M20606

chr11:
128839494-128839494

T

C

exonic

Maternal

nonsynonymous SNV

NM_014715
NM_001142685

c.A4525G
c.A5572G

p.K1509E
p.K1858E

22.2

1.648E-5

Wang2016 T

ARHGAP32

1-0273-004

chr11:
129199187-129199187

G

A

intergenic

De novo

-

Yuen2017 G

ARHGAP32

1-0706-003

chr11:
128867315-128867315

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARHGAP32

M17574

chr11:
128840289-128840289

T

C

exonic

Maternal

nonsynonymous SNV

NM_014715
NM_001142685

c.A3730G
c.A4777G

p.M1244V
p.M1593V

11.84

9.061E-5

Wang2016 T

ARHGAP32

M13398

chr11:
128848770-128848770

T

C

exonic

Maternal

nonsynonymous SNV

NM_014715
NM_001142685

c.A928G
c.A1975G

p.S310G
p.S659G

19.81

8.282E-6

Wang2016 T

ARHGAP32

1-0367-003

chr11:
128970371-128970371

C

T

intronic

De novo

-

Yuen2017 G

ARHGAP32

M21636

chr11:
128963551-128963551

T

C

exonic

Maternal

nonsynonymous SNV

NM_001142685

c.A454G

p.K152E

15.72

-

Wang2016 T

ARHGAP32

M17585

chr11:
128842787-128842787

C

T

exonic

Maternal

nonsynonymous SNV

NM_014715
NM_001142685

c.G2525A
c.G3572A

p.S842N
p.S1191N

6.486

-

Wang2016 T

ARHGAP32

M8428

chr11:
128843295-128843295

C

T

exonic

Maternal

nonsynonymous SNV

NM_014715
NM_001142685

c.G2017A
c.G3064A

p.V673I
p.V1022I

14.63

7.465E-5

Wang2016 T

ARHGAP32

2-1633-003

chr11:
129132618-129132618

A

C

intergenic

De novo

-

Yuen2017 G

ARHGAP32

M21681

chr11:
129062074-129062074

C

T

exonic

Maternal

nonsynonymous SNV

NM_001142685

c.G20A

p.S7N

10.02

-

Wang2016 T

ARHGAP32

M20247

chr11:
128840352-128840353

CG

C

exonic

Unknown, De novo

frameshift deletion

NM_014715
NM_001142685

c.3666delC
c.4713delC

p.P1222fs
p.P1571fs

-

Guo2018 T
Stessman2017 T
Wang2016 T

ARHGAP32

2-1461-003

chr11:
128905671-128905671

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ARHGAP32

M18428

chr11:
128843237-128843237

C

A

exonic

Maternal

nonsynonymous SNV

NM_014715
NM_001142685

c.G2075T
c.G3122T

p.R692L
p.R1041L

24.9

-

Wang2016 T

ARHGAP32

M8322

chr11:
128840540-128840540

G

A

exonic

Paternal

nonsynonymous SNV

NM_014715
NM_001142685

c.C3479T
c.C4526T

p.P1160L
p.P1509L

9.236

-

Wang2016 T

ARHGAP32

M12390

chr11:
128934779-128934779

G

A

exonic

Paternal

nonsynonymous SNV

NM_001142685

c.C677T

p.A226V

14.72

-

Wang2016 T

ARHGAP32

217-14372-4850

chr11:
128993419-128993421

GGG

AGTAAAGTACTTCGGAAAG

exonic

Inherited

frameshift substitution

NM_001142685

c.323_324TTTCCGAAGTACTTTACT

N/A

-

Stessman2017 T

ARHGAP32

210-18163-302

chr11:
128839787-128839787

C

T

exonic

Unknown

nonsynonymous SNV

NM_014715
NM_001142685

c.G4232A
c.G5279A

p.R1411H
p.R1760H

26.8

1.647E-5

Stessman2017 T

ARHGAP32

AU1339302

chr11:
128839688-128839688

C

T

exonic

Unknown

nonsynonymous SNV

NM_014715
NM_001142685

c.G4331A
c.G5378A

p.R1444H
p.R1793H

21.2

2.471E-5

Stessman2017 T

ARHGAP32

M20592

chr11:
128840364-128840364

T

C

exonic

Unknown

nonsynonymous SNV

NM_014715
NM_001142685

c.A3655G
c.A4702G

p.T1219A
p.T1568A

0.016

-

Wang2016 T

ARHGAP32

1-0636-003

chr11:
129223601-129223601

T

C

intergenic

De novo

-

Yuen2017 G

ARHGAP32

2-1741-003

chr11:
129187619-129187619

G

A

intergenic

De novo

-

Yuen2017 G

ARHGAP32

M13338

chr11:
128843026-128843026

A

T

exonic

Maternal

nonsynonymous SNV

NM_014715
NM_001142685

c.T2286A
c.T3333A

p.N762K
p.N1111K

12.81

-

Wang2016 T

ARHGAP32

M15024

chr11:
128851803-128851803

A

C

exonic

Paternal

nonsynonymous SNV

NM_014715
NM_001142685

c.T466G
c.T1513G

p.S156A
p.S505A

7.417

4.975E-5

Wang2016 T

ARHGAP32

M8856

chr11:
128840423-128840423

T

C

exonic

Unknown

nonsynonymous SNV

NM_014715
NM_001142685

c.A3596G
c.A4643G

p.H1199R
p.H1548R

11.22

-

Wang2016 T

ARHGAP32

AU1699302

chr11:
128846506-128846506

G

A

exonic

Unknown

nonsynonymous SNV

NM_014715
NM_001142685

c.C1057T
c.C2104T

p.R353C
p.R702C

25.4

1.648E-5

Stessman2017 T

ARHGAP32

1-0482-003

chr11:
128847299-128847299

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ARHGAP32

1-0065-005

chr11:
129054884-129054884

G

GAC

intronic

De novo

-

Yuen2017 G

ARHGAP32

1-0354-003

chr11:
128948678-128948678

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARHGAP32

M10126

chr11:
128840225-128840225

G

A

exonic

Maternal

nonsynonymous SNV

NM_014715
NM_001142685

c.C3794T
c.C4841T

p.P1265L
p.P1614L

19.49

8.238E-6

Wang2016 T

ARHGAP32

5-0015-004

chr11:
129060125-129060125

A

G

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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