Variant Results

or

or

Results for "IQGAP1"

Variant Events: 22

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

IQGAP1

2-1280-003

chr15:
91035611-91035611

C

T

intronic

De novo

-

-

Yuen2017 G

IQGAP1

iHART1268

chr15:
91017158-91017158

C

T

exonic

Paternal

stopgain

NM_003870

c.C2464T

p.R822X

22.8

-

Ruzzo2019 G

IQGAP1

iHART2436

chr15:
90992863-90992863

C

T

exonic

Maternal

stopgain

NM_003870

c.C1150T

p.Q384X

36.0

Ruzzo2019 G

IQGAP1

iHART2435

chr15:
90992863-90992863

C

T

exonic

Maternal

stopgain

NM_003870

c.C1150T

p.Q384X

36.0

Ruzzo2019 G

IQGAP1

mAGRE1268

chr15:
91017158-91017158

C

T

exonic

Paternal

stopgain

NM_003870

c.C2464T

p.R822X

22.8

-

Cirnigliaro2023 G

IQGAP1

mAGRE2436

chr15:
90992863-90992863

C

T

exonic

Maternal

stopgain

NM_003870

c.C1150T

p.Q384X

36.0

Cirnigliaro2023 G

IQGAP1

mAGRE2435

chr15:
90992863-90992863

C

T

exonic

Maternal

stopgain

NM_003870

c.C1150T

p.Q384X

36.0

Cirnigliaro2023 G

IQGAP1

SP0039072

chr15:
91027416-91027416

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

IQGAP1

1-0903-003

chr15:
91011073-91011073

G

C

intronic

De novo

-

-

Trost2022 G

IQGAP1

4-0084-003

chr15:
90957444-90957444

T

C

intronic

De novo

-

-

Trost2022 G

IQGAP1

7-0161-003

chr15:
91004627-91004627

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IQGAP1

MT_161.3

chr15:
90985676-90985676

C

CG

intronic

De novo

-

-

Trost2022 G

IQGAP1

MT_68.3

chr15:
90931784-90931784

G

C

intronic

De novo

-

-

Trost2022 G

IQGAP1

SP0023559

chr15:
91025906-91025906

C

A

intronic

De novo

-

-

Fu2022 E

IQGAP1

13762.p1

chr15:
91010810-91010810

C

T

exonic

De novo

nonsynonymous SNV

NM_003870

c.C2164T

p.R722W

15.0

-

Ji2016 E
Krumm2015 E

IQGAP1

SP0099157

chr15:
91025522-91025522

C

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G

IQGAP1

SP0077746

chr15:
91029222-91029222

A

AGTTGAATG

intronic

De novo

-

-

Fu2022 E

IQGAP1

SP0055475

chr15:
91030756-91030756

G

A

exonic

De novo

nonsynonymous SNV

NM_003870

c.G4190A

p.R1397Q

22.3

Fu2022 E
Zhou2022 GE

IQGAP1

AU4028302

chr15:
91059485-91059485

A

G

intergenic

De novo

-

-

Yuen2017 G

IQGAP1

SP0045624

chr15:
90997858-90997859

TA

T

intronic

De novo

-

-

Fu2022 E

IQGAP1

AU3915301

chr15:
90953082-90953082

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IQGAP1

SP0124488

chr15:
91021011-91021011

C

T

exonic

De novo

synonymous SNV

NM_003870

c.C3219T

p.A1073A

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

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