Variant Results

or

Results for "CPZ"

Variant Events: 32

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

CPZ

2-1416-003

chr4:
8844518-8844518

C

A

intergenic

De novo

-

Yuen2017 G

CPZ

AU4024303

chr4:
8636749-8636749

G

A

intergenic

De novo

-

Yuen2017 G

CPZ

SP0032857

chr4:
8608658-8608658

C

G

intronic

De novo

-

Fu2022 E

CPZ

AU4033305

chr4:
8623091-8623091

C

T

intergenic

De novo

-

Yuen2017 G

CPZ

SP0022019

chr4:
8621093-8621093

C

T

exonic

De novo

nonsynonymous SNV

NM_003652
NM_001014447
NM_001014448

c.C1675T
c.C1708T
c.C1297T

p.R559W
p.R570W
p.R433W

15.86

1.658E-5

Fu2022 E

CPZ

Cukier2014:37232

chr4:
8613762-8613762

G

T

exonic

Unknown

nonsynonymous SNV

NM_003652
NM_001014447
NM_001014448

c.G1203T
c.G1236T
c.G825T

p.K401N
p.K412N
p.K275N

15.83

0.006

Cukier2014 E

CPZ

1-0246-004

chr4:
8610791-8610791

C

CAT

intronic

De novo

-

Yuen2017 G

CPZ

1-0417-003

chr4:
8823698-8823698

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CPZ

2-0144-003

chr4:
8656233-8656233

A

T

intergenic

De novo

-

Yuen2017 G

CPZ

AU2381302

chr4:
8843293-8843293

G

A

intergenic

De novo

-

Yuen2017 G

CPZ

2-1620-004

chr4:
8662378-8662378

C

CGGA

intergenic

De novo

-

Yuen2017 G

CPZ

Uddin2014:3

chr4:
8620162-8620162

C

T

exonic

De novo

nonsynonymous SNV

NM_003652
NM_001014447
NM_001014448

c.C1477T
c.C1510T
c.C1099T

p.R493W
p.R504W
p.R367W

14.45

4.126E-5

Uddin2014 E

CPZ

2-0129-005

chr4:
8741974-8741974

C

A

intergenic

De novo

-

Yuen2017 G

CPZ

2-0210-004

chr4:
8610791-8610791

C

CAT

intronic

De novo

-

Yuen2017 G

CPZ

SP0020948

chr4:
8621112-8621112

G

A

exonic

De novo

nonsynonymous SNV

NM_003652
NM_001014447
NM_001014448

c.G1694A
c.G1727A
c.G1316A

p.R565H
p.R576H
p.R439H

33.0

4.0E-4

Feliciano2019 E
Fu2022 E

CPZ

1-0046-003

chr4:
8763298-8763298

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CPZ

2-0296-004

chr4:
8610759-8610759

C

CTCACTCATTTACTCAT

intronic

De novo

-

Yuen2017 G

CPZ

2-1086-004

chr4:
8642566-8642566

C

A

intergenic

De novo

-

Yuen2017 G

CPZ

iHART2479

chr4:
8605776-8605776

C

A

exonic

Paternal

stopgain

NM_003652
NM_001014447
NM_001014448

c.C537A
c.C570A
c.C159A

p.Y179X
p.Y190X
p.Y53X

37.0

-

Ruzzo2019 G

CPZ

AU057503

chr4:
8762375-8762375

C

A

intergenic

De novo

-

Yuen2017 G

CPZ

3-0434-000

chr4:
8649088-8649088

G

T

intergenic

De novo

-

Yuen2017 G

CPZ

1-0671-003

chr4:
8618084-8618084

G

A

intronic

De novo

-

Yuen2017 G

CPZ

AU05003

chr4:
8620216-8620216

C

T

exonic

De novo

nonsynonymous SNV

NM_003652
NM_001014447
NM_001014448

c.C1531T
c.C1564T
c.C1153T

p.R511W
p.R522W
p.R385W

15.26

8.267E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

CPZ

TAS_F7056X

chr4:
8621175-8621175

G

A

exonic

De novo

nonsynonymous SNV

NM_003652
NM_001014447
NM_001014448

c.G1757A
c.G1790A
c.G1379A

p.R586K
p.R597K
p.R460K

12.3

-

Fu2022 E
Satterstrom2020 E

CPZ

12656.p1

chr4:
8620162-8620162

C

T

exonic

De novo

nonsynonymous SNV

NM_003652
NM_001014447
NM_001014448

c.C1477T
c.C1510T
c.C1099T

p.R493W
p.R504W
p.R367W

14.45

4.126E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

CPZ

5-0025-004

chr4:
8778034-8778034

C

A

intergenic

De novo

-

Yuen2017 G

CPZ

iHART2291

chr4:
8621059-8621059

C

G

exonic

Maternal

stopgain

NM_003652
NM_001014447
NM_001014448

c.C1641G
c.C1674G
c.C1263G

p.Y547X
p.Y558X
p.Y421X

20.1

2.0E-4

Ruzzo2019 G

CPZ

13515.p1

chr4:
8648059-8648059

G

A

intergenic

De novo

-

Turner2016 G

CPZ

1-0563-003

chr4:
8604846-8604846

T

C

intronic

De novo

-

Yuen2017 G

CPZ

SSC05666

chr4:
8620162-8620162

C

T

exonic

De novo

nonsynonymous SNV

NM_003652
NM_001014447
NM_001014448

c.C1477T
c.C1510T
c.C1099T

p.R493W
p.R504W
p.R367W

14.45

4.126E-5

Fu2022 E
Lim2017 E

CPZ

AU2792302

chr4:
8621227-8621227

G

A

exonic

De novo

synonymous SNV

NM_003652
NM_001014447
NM_001014448

c.G1809A
c.G1842A
c.G1431A

p.T603T
p.T614T
p.T477T

-

5.0E-4

Yuen2017 G

CPZ

7-0095-004

chr4:
8611096-8611096

T

TCACTCATTTACTCATTCACC

intronic

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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