Variant Results

or

Results for "ARHGEF28"

Variant Events: 34

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

ARHGEF28

2-1485-003

chr5:
73552683-73552683

A

C

intergenic

De novo

-

Yuen2017 G

ARHGEF28

AU043804

chr5:
73008444-73008444

T

G

intronic

De novo

-

Yuen2017 G

ARHGEF28

3-0456-000B

chr5:
73144882-73144882

C

T

exonic

De novo

nonsynonymous SNV

NM_001244364
NM_001080479
NM_001177693

c.C778T
c.C1717T
c.C1717T

p.R260C
p.R573C
p.R573C

19.25

6.0E-4

Yuen2017 G

ARHGEF28

AU056005

chr5:
73221709-73221709

C

T

intronic

De novo

-

Yuen2017 G

ARHGEF28

2-1112-003

chr5:
73031975-73031975

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ARHGEF28

3-0456-000

chr5:
73144882-73144882

C

T

exonic

De novo

nonsynonymous SNV

NM_001244364
NM_001080479
NM_001177693

c.C778T
c.C1717T
c.C1717T

p.R260C
p.R573C
p.R573C

19.25

6.0E-4

Yuen2016 G
Yuen2017 G

ARHGEF28

A5

chr5:
73547277-73547277

C

T

intergenic

De novo

-

Wu2018 G

ARHGEF28

7-0077-003

chr5:
73357104-73357104

T

C

intergenic

De novo

-

Yuen2017 G

ARHGEF28

7-0161-003

chr5:
73594286-73594286

T

G

intergenic

De novo

-

Yuen2017 G

ARHGEF28

A15

chr5:
73253179-73253179

G

A

intergenic

De novo

-

Wu2018 G

ARHGEF28

AU0540301

chr5:
73453922-73453922

G

A

intergenic

De novo

-

Yuen2017 G

ARHGEF28

2-1485-004

chr5:
73552683-73552683

A

C

intergenic

De novo

-

Yuen2017 G

ARHGEF28

7-0128-003

chr5:
73483047-73483047

C

T

intergenic

De novo

-

Yuen2017 G

ARHGEF28

AU2433303

chr5:
73141003-73141003

C

T

intronic

De novo

-

Yuen2017 G

ARHGEF28

1-0606-003

chr5:
73048181-73048196

AACACACACACACACA

AACACACACACACA

intronic

De novo

-

Yuen2017 G

ARHGEF28

ASC_CA_158_A

chr5:
73190355-73190355

G

A

exonic

De novo

nonsynonymous SNV

NM_001244364
NM_001080479
NM_001177693

c.G2857A
c.G3796A
c.G3796A

p.E953K
p.E1266K
p.E1266K

22.9

8.372E-6

Satterstrom2020 E

ARHGEF28

2-1207-003

chr5:
73459433-73459433

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ARHGEF28

2-1529-003

chr5:
73297767-73297767

C

A

intergenic

De novo

-

Yuen2017 G

ARHGEF28

AU4286302

chr5:
73210513-73210513

C

T

intronic

De novo

-

Yuen2017 G

ARHGEF28

1-0459-004

chr5:
73547601-73547601

A

C

intergenic

De novo

-

Yuen2017 G

ARHGEF28

1-0671-003

chr5:
73280831-73280831

G

A

intergenic

De novo

-

Yuen2017 G

ARHGEF28

AU1223301

chr5:
73420673-73420673

C

T

intergenic

De novo

-

Yuen2017 G

ARHGEF28

2-1426-003

chr5:
73339663-73339665

ACC

AC

intergenic

De novo

-

Yuen2017 G

ARHGEF28

5-0040-003

chr5:
73303037-73303041

CTATT

C

intergenic

De novo

-

Yuen2017 G

ARHGEF28

AU045512

chr5:
73389310-73389310

G

A

intergenic

De novo

-

Yuen2017 G

ARHGEF28

2-1128-003

chr5:
72989801-72989801

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ARHGEF28

AU073005

chr5:
73455380-73455380

A

G

intergenic

De novo

-

Yuen2017 G

ARHGEF28

2-1355-003

chr5:
73491327-73491327

T

C

intergenic

De novo

-

Yuen2017 G

ARHGEF28

AU3720302

chr5:
73287336-73287336

C

G

intergenic

De novo

-

Yuen2017 G

ARHGEF28

1-0871-003

chr5:
72932550-72932550

A

G

intronic

De novo

-

Yuen2017 G

ARHGEF28

AU4012302

chr5:
73395684-73395684

G

A

intergenic

De novo

-

Yuen2017 G

ARHGEF28

Cukier2014:7663

chr5:
73153552-73153552

G

A

exonic

Unknown

nonsynonymous SNV

NM_001244364
NM_001080479
NM_001177693

c.G923A
c.G1862A
c.G1862A

p.R308Q
p.R621Q
p.R621Q

34.0

0.0079

Cukier2014 E

ARHGEF28

AU3801301

chr5:
73184449-73184449

C

T

intronic

De novo

-

Yuen2017 G

ARHGEF28

1-0627-006

chr5:
73594491-73594491

T

C

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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