Variant Results

or

Results for "ARHGEF11"

Variant Events: 26

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

ARHGEF11

2-1379-003

chr1:
156944098-156944098

A

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ARHGEF11

7-0322-003

chr1:
156968161-156968161

C

A

intronic

De novo

-

Trost2022 G

ARHGEF11

REACH000089

chr1:
156950464-156950464

T

C

intronic

De novo

-

Trost2022 G

ARHGEF11

MSSNG00383-003

chr1:
156979206-156979206

T

G

intronic

De novo

-

Trost2022 G

ARHGEF11

MT_151.4

chr1:
156973327-156973327

G

A

intronic

De novo

-

Trost2022 G

ARHGEF11

1-0347-003

chr1:
156937652-156937656

CTCAA

TTGAGAC

intronic

De novo

-

Trost2022 G

ARHGEF11

MT_68.3

chr1:
156905205-156905205

G

A

UTR3

De novo

-

Trost2022 G

ARHGEF11

7-0314-003A

chr1:
157013579-157013579

C

T

intronic

De novo

-

Trost2022 G

ARHGEF11

1-1167-003

chr1:
157007114-157007114

A

G

intronic

De novo

-

Trost2022 G

ARHGEF11

SP0144434

chr1:
156941555-156941555

G

A

exonic

synonymous SNV

NM_198236

c.C636T

p.I212I

-

4.947E-5

Zhou2022 GE

ARHGEF11

REACH000626

chr1:
156986914-156986914

G

A

intronic

De novo

-

Trost2022 G

ARHGEF11

2-1775-003

chr1:
156985637-156985637

A

C

intronic

De novo

-

Trost2022 G

ARHGEF11

7-0420-003

chr1:
157007023-157007023

C

T

intronic

De novo

-

Trost2022 G

ARHGEF11

MSSNG00438-003

chr1:
157001972-157001972

A

C

intronic

De novo

-

Trost2022 G

ARHGEF11

7-0068-003

chr1:
157016146-157016146

C

T

upstream

De novo

-

Trost2022 G
Yuen2017 G

ARHGEF11

13115.p1

chr1:
156909381-156909381

G

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_014784
NM_198236

c.C3935T
c.C4055T

p.S1312L
p.S1352L

11.38

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

ARHGEF11

1-0835-003

chr1:
156980918-156980918

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARHGEF11

SP0022569

chr1:
156906956-156906956

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

ARHGEF11

SP0016173

chr1:
156948026-156948026

T

C

exonic

De novo

synonymous SNV

NM_014784
NM_198236

c.A480G
c.A480G

p.P160P
p.P160P

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ARHGEF11

SP0010139

chr1:
156910031-156910031

A

G

exonic

De novo

nonsynonymous SNV

NM_014784
NM_198236

c.T3581C
c.T3701C

p.M1194T
p.M1234T

10.7

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ARHGEF11

ASC_CA_115_A

chr1:
156955969-156955972

GAGA

G

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ARHGEF11

DEASD_0084_001

chr1:
156928572-156928572

T

C

exonic

De novo

synonymous SNV

NM_014784
NM_198236

c.A1344G
c.A1464G

p.Q448Q
p.Q488Q

-

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

ARHGEF11

13115_p1

chr1:
156909381-156909381

G

A

exonic

De novo

nonsynonymous SNV

NM_014784
NM_198236

c.C3935T
c.C4055T

p.S1312L
p.S1352L

11.38

-

Fu2022 E

ARHGEF11

SP0064099

chr1:
156921548-156921548

A

C

intronic

De novo

-

Fu2022 E

ARHGEF11

SP0030700

chr1:
156918544-156918544

G

C

intronic

De novo

-

Fu2022 E
Trost2022 G

ARHGEF11

SP0045624

chr1:
156924748-156924748

A

ATTGATTGACTTTTCATGGTTTAC

intronic

De novo

-

Fu2022 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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