Variant Results

or

Results for "ARHGEF2"

Variant Events: 14

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

ARHGEF2

SP0131273

chr1:
155921296-155921296

T

C

exonic

De novo

nonsynonymous SNV

NM_001162383
NM_001162384
NM_004723

c.A2237G
c.A2234G
c.A2153G

p.Y746C
p.Y745C
p.Y718C

19.18

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ARHGEF2

2-1323-003

chr1:
155963945-155963945

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ARHGEF2

1-1202-003

chr1:
155920204-155920204

G

A

exonic

De novo

stopgain

NM_001162383
NM_001162384
NM_004723

c.C2773T
c.C2770T
c.C2689T

p.R925X
p.R924X
p.R897X

40.0

-

Trost2022 G
Zhou2022 GE

ARHGEF2

MSSNG00048-003

chr1:
155932936-155932936

T

A

exonic

De novo

stopgain

NM_001162383
NM_001162384
NM_004723

c.A763T
c.A760T
c.A679T

p.K255X
p.K254X
p.K227X

21.5

-

Trost2022 G
Zhou2022 GE

ARHGEF2

AU2213301

chr1:
155927654-155927654

G

A

exonic

nonsynonymous SNV

NM_001162383
NM_001162384
NM_004723

c.C1565T
c.C1562T
c.C1481T

p.S522L
p.S521L
p.S494L

21.8

1.694E-5

Zhou2022 GE

ARHGEF2

SP0050537

chr1:
155948399-155948399

A

C

upstream

De novo

-

Fu2022 E

ARHGEF2

08C72260

chr1:
155927654-155927654

G

A

exonic

De novo

nonsynonymous SNV

NM_001162383
NM_001162384
NM_004723

c.C1565T
c.C1562T
c.C1481T

p.S522L
p.S521L
p.S494L

21.8

1.694E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ARHGEF2

SP0036804

chr1:
155932327-155932327

T

G

intronic

De novo

-

Fu2022 E

ARHGEF2

AU0146301

chr1:
155935398-155935398

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARHGEF2

AU4483301

chr1:
155921140-155921140

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARHGEF2

2-0278-003

chr1:
155964093-155964093

G

T

intergenic

De novo

-

Yuen2017 G

ARHGEF2

DEASD_0278_001

chr1:
155932442-155932442

G

A

exonic

De novo

nonsynonymous SNV

NM_001162383
NM_001162384
NM_004723

c.C1043T
c.C1040T
c.C959T

p.A348V
p.A347V
p.A320V

28.3

-

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

ARHGEF2

2-0149-005

chr1:
155924056-155924057

AT

GC

intronic

De novo

-

Trost2022 G

ARHGEF2

1-0006-003

chr1:
155953749-155953751

GCT

G

intergenic

De novo

-

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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