Variant Results

or

Results for "IQGAP2"

Variant Events: 16

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

IQGAP2

2-1303-003

chr5:
75723464-75723466

CAT

C

intronic

De novo

-

Yuen2017 G

IQGAP2

1-0706-003

chr5:
75962773-75962773

G

A

intronic

De novo

-

Yuen2017 G

IQGAP2

12752.p1

chr5:
75902128-75902128

C

T

exonic

De novo

stopgain

NM_001285460
NM_006633

c.C1207T
c.C1357T

p.R403X
p.R453X

37.0

1.695E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Willsey2013 E

IQGAP2

2-1297-003

chr5:
75979270-75979270

G

T

intronic

De novo

-

Yuen2017 G

IQGAP2

3-0209-000

chr5:
75980380-75980380

T

C

intronic

De novo

-

Yuen2017 G

IQGAP2

AU4007301

chr5:
75807511-75807511

G

T

intronic

De novo

-

Yuen2017 G

IQGAP2

AU3302302

chr5:
75705736-75705738

TCC

TC

intronic

De novo

-

Yuen2017 G

IQGAP2

1-0214-003

chr5:
76002775-76002775

A

G

intronic

De novo

-

Yuen2017 G

IQGAP2

Cukier2014:7637

chr5:
75960968-75960968

G

C

exonic

Unknown

nonsynonymous SNV

NM_001285461
NM_001285462
NM_001285460
NM_006633

c.G1135C
c.G1135C
c.G2497C
c.G2647C

p.E379Q
p.E379Q
p.E833Q
p.E883Q

28.9

0.0034

Cukier2014 E

IQGAP2

1-0054-004

chr5:
75776781-75776781

A

G

intronic

De novo

-

Yuen2017 G

IQGAP2

1-0486-003

chr5:
75864725-75864725

T

C

intronic

De novo

-

Yuen2017 G

IQGAP2

2-1389-003

chr5:
75930430-75930430

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

IQGAP2

AU000704

chr5:
75712153-75712153

A

T

intronic

De novo

-

Yuen2017 G

IQGAP2

AU3937301

chr5:
75721416-75721416

C

G

intronic

De novo

-

Yuen2017 G

IQGAP2

1-0469-005

chr5:
75925057-75925057

T

C

intronic

De novo

-

Yuen2017 G

IQGAP2

80001104504

chr5:
75973032-75973032

C

T

intronic

De novo

-

Satterstrom2020 E

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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