Variant Results

or

Results for "CDC42BPA"

Variant Events: 29

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

CDC42BPA

2-0320-003

chr1:
227746250-227746250

C

T

intergenic

De novo

-

Yuen2017 G

CDC42BPA

2-1066-004

chr1:
227601527-227601527

T

C

intergenic

De novo

-

Yuen2017 G

CDC42BPA

1-0067-005

chr1:
227296345-227296345

A

C

intronic

De novo

-

Yuen2017 G

CDC42BPA

2-1302-003

chr1:
227181988-227181988

C

G

exonic

De novo

nonsynonymous SNV

NM_014826
NM_003607

c.G4898C
c.G5141C

p.R1633P
p.R1714P

23.2

-

Yuen2017 G

CDC42BPA

AU3861301

chr1:
227599392-227599392

G

A

intergenic

De novo

-

Yuen2017 G

CDC42BPA

AU3900301

chr1:
227246961-227246961

T

C

intronic

De novo

-

Yuen2017 G

CDC42BPA

111304

chr1:
227262042-227262042

C

T

exonic

nonsynonymous SNV

NM_014826
NM_003607

c.G2261A
c.G2504A

p.R754Q
p.R835Q

36.0

-

Woodbury-Smith2022 E

CDC42BPA

2-0110-003

chr1:
227473477-227473477

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CDC42BPA

2-0013-003

chr1:
227198437-227198437

G

GGAA

intronic

De novo

-

Yuen2017 G

CDC42BPA

1-0382-003

chr1:
227485966-227485966

C

T

intronic

De novo

-

Yuen2017 G

CDC42BPA

AU038204

chr1:
227466016-227466016

C

T

intronic

De novo

-

Yuen2017 G

CDC42BPA

12015.p1

chr1:
227335241-227335241

A

C

exonic

De novo

nonsynonymous SNV

NM_003607
NM_014826

c.T713G
c.T713G

p.V238G
p.V238G

24.9

2.0E-4

Satterstrom2020 E

CDC42BPA

1-0558-003

chr1:
227722190-227722219

CTGTGTGTGTGTGTGTTTGTGTGTGTGTGT

CTGTGTGTGTGTGTTTGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

CDC42BPA

5-0025-004

chr1:
227482434-227482434

G

A

intronic

De novo

-

Yuen2017 G

CDC42BPA

CC940.201

chr1:
227239609-227239609

G

A

intronic

De novo

10.22

-

Satterstrom2020 E

CDC42BPA

CC940_201

chr1:
227239609-227239609

G

A

intronic

De novo

10.22

-

Fu2022 E

CDC42BPA

UK10K_SKUSE5080268

chr1:
227307548-227307548

T

G

exonic

De novo

nonsynonymous SNV

NM_003607
NM_014826

c.A1604C
c.A1604C

p.K535T
p.K535T

25.5

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

CDC42BPA

AU031004

chr1:
227561892-227561892

A

G

intergenic

De novo

-

Yuen2017 G

CDC42BPA

1-0656-003

chr1:
227187925-227187929

TCCCC

TCCCCC

intronic

De novo

-

Yuen2017 G

CDC42BPA

SP0027311

chr1:
227327372-227327372

T

C

exonic

De novo

nonsynonymous SNV

NM_003607
NM_014826

c.A1295G
c.A1295G

p.Q432R
p.Q432R

25.5

-

Fu2022 E

CDC42BPA

2-0208-003

chr1:
227456323-227456323

A

AG

intronic

De novo

-

Yuen2017 G

CDC42BPA

7-0249-003

chr1:
227684988-227684988

G

A

intergenic

De novo

-

Yuen2017 G

CDC42BPA

SP0050475

chr1:
227261949-227261949

T

C

intronic

De novo

-

6.641E-5

Fu2022 E

CDC42BPA

7-0223-003

chr1:
227319654-227319654

G

A

intronic

De novo

-

Yuen2017 G

CDC42BPA

AU072004

chr1:
227664730-227664730

A

C

intergenic

De novo

-

Yuen2017 G

CDC42BPA

AU3857301

chr1:
227241958-227241958

A

G

intronic

De novo

-

Yuen2017 G

CDC42BPA

AU2525302

chr1:
227432970-227432970

G

A

intronic

De novo

-

Yuen2017 G

CDC42BPA

5-0129-003

chr1:
227744540-227744540

T

C

intergenic

De novo

-

Yuen2017 G

CDC42BPA

AU2156303

chr1:
227611576-227611576

C

A

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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