Variant Results

or

Results for "IQGAP3"

Variant Events: 52

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

IQGAP3

Stessman2017:ASD_1344-1

chr1:
156534474-156534474

G

A

exonic

Unknown

nonsynonymous SNV

NM_178229

c.C370T

p.P124S

32.0

-

Stessman2017 T

IQGAP3

B6U2X

Complex Event; expand row to view variants

Unknown

nonsynonymous SNV

NM_178229
NM_178229

c.G125T
c.G125A

p.R42L
p.R42H

32.0

1.758E-5

Stessman2017 T
Stessman2017 T

IQGAP3

220-9924-201

chr1:
156533603-156533603

G

A

exonic

Unknown

nonsynonymous SNV

NM_178229

c.C451T

p.R151W

24.6

8.699E-5

Stessman2017 T

IQGAP3

07C69352

chr1:
156533628-156533628

C

T

intronic

De novo

-

6.345E-5

Satterstrom2020 E
Trost2022 G

IQGAP3

1-0844-004

chr1:
156532411-156532411

G

T

exonic

De novo

nonsynonymous SNV

NM_178229

c.C845A

p.A282D

18.71

-

Trost2022 G
Zhou2022 GE

IQGAP3

M02383

chr1:
156497764-156497764

G

A

exonic

Unknown

stopgain

NM_178229

c.C4762T

p.R1588X

43.0

2.472E-5

Guo2018 T
Wang2016 T

IQGAP3

GX0023.p1

chr1:
156508601-156508602

CT

C

exonic

Maternal

frameshift deletion

NM_178229

c.3280delA

p.S1094fs

-

Guo2018 T

IQGAP3

M15113

chr1:
156496375-156496375

T

A

exonic

Unknown

nonsynonymous SNV

NM_178229

c.A4799T

p.Q1600L

25.3

-

Stessman2017 T

IQGAP3

SP0137425

chr1:
156532480-156532480

G

A

intronic

De novo

-

Fu2022 E

IQGAP3

SP0081047

chr1:
156499965-156499965

G

T

exonic

De novo

synonymous SNV

NM_178229

c.C4336A

p.R1446R

-

Fu2022 E
Trost2022 G
Zhou2022 GE

IQGAP3

M17418

chr1:
156514254-156514254

C

T

exonic

Unknown

nonsynonymous SNV

NM_178229

c.G2315A

p.R772Q

22.4

-

Stessman2017 T

IQGAP3

P3W4N

chr1:
156535883-156535883

T

A

exonic

Unknown

nonsynonymous SNV

NM_178229

c.A296T

p.H99L

26.2

8.237E-6

Stessman2017 T

IQGAP3

M17423

Complex Event; expand row to view variants

Unknown

nonsynonymous SNV

NM_178229
NM_178229

c.G188A
c.G188T

p.R63Q
p.R63L

28.3

7.452E-5

Stessman2017 T
Stessman2017 T

IQGAP3

AU059903

chr1:
156534435-156534435

G

A

exonic

Unknown

nonsynonymous SNV

NM_178229

c.C409T

p.R137W

22.9

5.765E-5

Stessman2017 T

IQGAP3

GX0392.p1

chr1:
156506973-156506973

G

A

exonic

Paternal

nonsynonymous SNV

NM_178229

c.C3422T

p.P1141L

32.0

-

Guo2018 T

IQGAP3

11067_p1

chr1:
156503911-156503911

G

C

exonic

De novo

nonsynonymous SNV

NM_178229

c.C3763G

p.Q1255E

12.55

-

Fu2022 E

IQGAP3

36798

chr1:
156536205-156536205

C

T

exonic

De novo

nonsynonymous SNV

NM_178229

c.G259A

p.D87N

27.0

-

Fu2022 E
Trost2022 G

IQGAP3

217-14135-2330

chr1:
156524136-156524136

C

T

exonic

Unknown

nonsynonymous SNV

NM_178229

c.G1339A

p.V447M

28.5

-

Stessman2017 T

IQGAP3

iHART1003

chr1:
156517999-156517999

G

A

exonic

Paternal

stopgain

NM_178229

c.C2170T

p.Q724X

39.0

8.28E-6

Ruzzo2019 G

IQGAP3

M13451

chr1:
156506972-156506972

C

A

splicing

Unknown

splicing

23.0

-

Guo2018 T
Wang2016 T

IQGAP3

iHART2253

chr1:
156533066-156533066

G

A

exonic

Paternal

stopgain

NM_178229

c.C658T

p.R220X

38.0

5.045E-5

Ruzzo2019 G

IQGAP3

03C19911

chr1:
156507049-156507049

C

A

exonic

Unknown

nonsynonymous SNV

NM_178229

c.G3346T

p.D1116Y

24.8

1.65E-5

Stessman2017 T

IQGAP3

mAGRE2253

chr1:
156533066-156533066

G

A

exonic

Paternal

stopgain

NM_178229

c.C658T

p.R220X

38.0

5.045E-5

Cirnigliaro2023 G

IQGAP3

mAGRE1003

chr1:
156517999-156517999

G

A

exonic

Paternal

stopgain

NM_178229

c.C2170T

p.Q724X

39.0

8.28E-6

Cirnigliaro2023 G

IQGAP3

mAGRE1245

chr1:
156506972-156506972

C

T

splicing

Maternal

splicing

23.5

2.0E-4

Cirnigliaro2023 G

IQGAP3

08C79609

chr1:
156517835-156517835

C

T

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

IQGAP3

mAGRE1090

chr1:
156506972-156506972

C

T

splicing

Paternal

splicing

23.5

2.0E-4

Cirnigliaro2023 G

IQGAP3

EGAN00001100887

chr1:
156533080-156533080

T

C

exonic

De novo

nonsynonymous SNV

NM_178229

c.A644G

p.N215S

27.6

7.0E-4

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

IQGAP3

217-14295-4160

chr1:
156517944-156517944

C

T

exonic

Unknown

nonsynonymous SNV

NM_178229

c.G2225A

p.R742H

27.0

2.561E-5

Stessman2017 T

IQGAP3

210-18144-302

chr1:
156510583-156510583

G

A

exonic

Inherited

stopgain

NM_178229

c.C2656T

p.R886X

41.0

-

Stessman2017 T

IQGAP3

05C47096

chr1:
156524111-156524111

T

A

exonic

Unknown

nonsynonymous SNV

NM_178229

c.A1364T

p.E455V

21.4

-

Stessman2017 T

IQGAP3

11067.p1

chr1:
156503911-156503911

G

C

exonic

De novo

nonsynonymous SNV

NM_178229

c.C3763G

p.Q1255E

12.55

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

IQGAP3

14531.p1

chr1:
156536205-156536205

C

T

exonic

De novo

nonsynonymous SNV

NM_178229

c.G259A

p.D87N

27.0

-

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

IQGAP3

MSSNG00054-005

chr1:
156503985-156503985

A

G

intronic

De novo

-

Trost2022 G

IQGAP3

211-5214-3

chr1:
156517999-156517999

G

A

exonic

Maternal

stopgain

NM_178229

c.C2170T

p.Q724X

39.0

8.28E-6

Stessman2017 T

IQGAP3

REACH000233

chr1:
156499752-156499752

G

A

intronic

De novo

-

Trost2022 G

IQGAP3

SP0083528

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

IQGAP3

7-0410-003

chr1:
156515325-156515325

T

A

intronic

De novo

-

Trost2022 G

IQGAP3

SP0010399

chr1:
156532353-156532353

A

C

intronic

De novo

-

Trost2022 G

IQGAP3

SP0010130

chr1:
156532353-156532353

A

C

intronic

De novo

-

Trost2022 G

IQGAP3

3-0526-000

chr1:
156538020-156538020

T

G

intronic

De novo

-

Trost2022 G

IQGAP3

343479

chr1:
156505040-156505040

C

T

splicing

Unknown

splicing

20.3

8.356E-6

Stessman2017 T

IQGAP3

SP0149791

chr1:
156532353-156532353

A

C

intronic

De novo

-

Trost2022 G

IQGAP3

SP0145909

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

IQGAP3

SP0117117

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

IQGAP3

370627

chr1:
156504393-156504393

G

A

exonic

Inherited

stopgain

NM_178229

c.C3640T

p.Q1214X

42.0

-

Stessman2017 T

IQGAP3

SP0252978

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

IQGAP3

219-2309-0001

chr1:
156531701-156531701

G

A

exonic

Inherited

stopgain

NM_178229

c.C970T

p.R324X

37.0

3.3E-5

Stessman2017 T

IQGAP3

SP0198208

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

IQGAP3

410545

chr1:
156514208-156514209

AA

A

exonic

Inherited

frameshift deletion

NM_178229

c.2360delT

p.F787fs

-

Stessman2017 T

IQGAP3

GX0510.p1

chr1:
156513966-156513966

C

T

exonic

Maternal

nonsynonymous SNV

NM_178229

c.G2438A

p.R813H

34.0

8.237E-6

Guo2018 T

IQGAP3

Stessman2017:ASD_1343-1

chr1:
156534474-156534474

G

A

exonic

Unknown

nonsynonymous SNV

NM_178229

c.C370T

p.P124S

32.0

-

Stessman2017 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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