Variant Results

or

Results for "ARHGEF4"

Variant Events: 24

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

ARHGEF4

AU2089302

chr2:
131683663-131683663

C

T

intronic

De novo

-

Trost2022 G

ARHGEF4

7-0354-005

chr2:
131788892-131788892

G

A

intronic

De novo

-

Trost2022 G

ARHGEF4

AU3779302

chr2:
131767652-131767652

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARHGEF4

SP0182257

chr2:
131792732-131792732

G

T

intronic

De novo

-

Trost2022 G

ARHGEF4

7-0224-003

chr2:
131760913-131760913

A

C

intronic

De novo

-

Trost2022 G

ARHGEF4

REACH000194

chr2:
131780694-131780694

C

A

intronic

De novo

-

Trost2022 G

ARHGEF4

MSSNG00001-004

chr2:
131744142-131744142

G

A

intronic

De novo

-

Trost2022 G

ARHGEF4

MSSNG00439-004

chr2:
131758532-131758532

T

C

intronic

De novo

-

Trost2022 G

ARHGEF4

14100.p1

chr2:
131796442-131796442

G

A

exonic

De novo

nonsynonymous SNV

NM_032995
NM_015320

c.G584A
c.G584A

p.S195N
p.S195N

15.15

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

ARHGEF4

REACH000597

chr2:
131723438-131723438

A

C

intronic

De novo

-

Trost2022 G

ARHGEF4

1-0903-004

chr2:
131740992-131740995

TTAT

AG

intronic

De novo

-

Trost2022 G

ARHGEF4

SP0012087

chr2:
131803795-131803795

T

C

UTR3

De novo

-

Fu2022 E
Trost2022 G

ARHGEF4

SP0060274

chr2:
131797161-131797161

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

ARHGEF4

SP0080407

chr2:
131674749-131674749

G

T

intronic

De novo

9.29

-

Fu2022 E
Zhou2022 GE

ARHGEF4

4-0035-003

chr2:
131804931-131804931

G

T

downstream

De novo

-

Trost2022 G

ARHGEF4

SP0025116

chr2:
131792831-131792831

G

A

intronic

De novo

-

Trost2022 G

ARHGEF4

MSSNG00231-003

chr2:
131793999-131793999

A

G

intronic

De novo

-

Trost2022 G

ARHGEF4

IGM9681

chr2:
131769382-131769382

G

T

intronic

De novo

8.73

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ARHGEF4

3D628

chr2:
131785553-131785553

G

A

exonic

De novo

nonsynonymous SNV

NM_032995
NM_015320

c.G463A
c.G463A

p.A155T
p.A155T

12.96

5.824E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ARHGEF4

AU2433302

chr2:
131797715-131797715

A

G

exonic

De novo

nonsynonymous SNV

NM_032995
NM_015320

c.A874G
c.A874G

p.I292V
p.I292V

29.2

-

Yuen2017 G
Zhou2022 GE

ARHGEF4

AU4211304

chr2:
131749774-131749774

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARHGEF4

AU2569303

chr2:
131804072-131804072

C

A

UTR3

De novo

-

Trost2022 G
Yuen2017 G

ARHGEF4

SSC10777

chr2:
131796442-131796442

G

A

exonic

De novo

nonsynonymous SNV

NM_032995
NM_015320

c.G584A
c.G584A

p.S195N
p.S195N

15.15

-

Fu2022 E
Lim2017 E
Trost2022 G

ARHGEF4

13846.p1

chr2:
131675004-131675004

G

C

UTR5

9.324

-

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
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