Variant Results

or

Results for "PDE4B"

Variant Events: 40

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

PDE4B

AU3779302

chr1:
66683376-66683376

T

G

intronic

De novo

-

Yuen2017 G

PDE4B

SSC05963

chr1:
66833455-66833455

G

A

exonic

De novo

synonymous SNV

NM_001037339
NM_001297442
NM_001037340
NM_001297440
NM_001297441
NM_001037341
NM_002600

c.G945A
c.G762A
c.G1416A
c.G1185A
c.G1236A
c.G1461A
c.G1461A

p.L315L
p.L254L
p.L472L
p.L395L
p.L412L
p.L487L
p.L487L

-

8.248E-6

Lim2017 E

PDE4B

AU1952305

chr1:
66838314-66838314

A

G

exonic

De novo

nonsynonymous SNV

NM_001037339
NM_001297442
NM_001037340
NM_001297440
NM_001297441
NM_001037341
NM_002600

c.A1648G
c.A1465G
c.A2119G
c.A1888G
c.A1939G
c.A2164G
c.A2164G

p.T550A
p.T489A
p.T707A
p.T630A
p.T647A
p.T722A
p.T722A

8.265

2.0E-4

Yuen2017 G

PDE4B

5-0014-003

chr1:
66939746-66939746

T

G

intergenic

De novo

-

Yuen2017 G

PDE4B

12691.p1

chr1:
66833455-66833455

G

A

exonic

De novo

synonymous SNV

NM_001037339
NM_001297442
NM_001037340
NM_001297440
NM_001297441
NM_001037341
NM_002600

c.G945A
c.G762A
c.G1416A
c.G1185A
c.G1236A
c.G1461A
c.G1461A

p.L315L
p.L254L
p.L472L
p.L395L
p.L412L
p.L487L
p.L487L

-

8.248E-6

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

PDE4B

2-1288-003

chr1:
66437734-66437734

G

T

intronic

De novo

-

Yuen2017 G

PDE4B

5-0111-003

chr1:
66965729-66965729

G

A

intergenic

De novo

-

Yuen2017 G

PDE4B

AU2109301

chr1:
66677316-66677316

G

A

intronic

De novo

-

Yuen2017 G

PDE4B

1-0215-006

chr1:
66624803-66624803

T

C

intronic

De novo

-

Yuen2017 G

PDE4B

2-1205-003

chr1:
66841754-66841754

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PDE4B

2-0210-004

chr1:
66934984-66934984

C

G

intergenic

De novo

-

Yuen2017 G

PDE4B

AU3913302

chr1:
66402041-66402041

C

A

intronic

De novo

-

Yuen2017 G

PDE4B

AU4286302

chr1:
66812442-66812442

A

G

intronic

De novo

-

Yuen2017 G

PDE4B

iHART3217

chr1:
66838335-66838335

G

T

exonic

Paternal

stopgain

NM_001037339
NM_001297442
NM_001037340
NM_001297440
NM_001297441
NM_001037341
NM_002600

c.G1669T
c.G1486T
c.G2140T
c.G1909T
c.G1960T
c.G2185T
c.G2185T

p.E557X
p.E496X
p.E714X
p.E637X
p.E654X
p.E729X
p.E729X

24.2

8.369E-6

Ruzzo2019 G

PDE4B

2-1177-003

chr1:
66457590-66457590

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PDE4B

5-0087-003

chr1:
66718352-66718352

G

A

intronic

De novo

-

Yuen2017 G

PDE4B

2-1222-003

chr1:
66624337-66624337

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PDE4B

AU047703

chr1:
66766674-66766674

T

A

intronic

De novo

-

Yuen2017 G

PDE4B

2-1371-003

chr1:
66984753-66984768

GCACACACACACACAC

GCACACACACACAC

intergenic

De novo

-

Yuen2017 G

PDE4B

AU2950302

chr1:
66577438-66577438

A

G

intronic

De novo

-

Yuen2017 G

PDE4B

AU2756306

chr1:
66424431-66424448

ACGCGCGCGCGCGCGCGC

ACGCGCGCGCGCGCGC

intronic

De novo

-

Yuen2017 G

PDE4B

2-0309-005

chr1:
66554382-66554382

G

A

intronic

De novo

-

Yuen2017 G

PDE4B

1-0203-004

chr1:
66608354-66608354

G

A

intronic

De novo

-

Yuen2017 G

PDE4B

1-0269-003

chr1:
66627677-66627677

A

T

intronic

De novo

-

Yuen2017 G

PDE4B

AU066206

chr1:
66407268-66407273

CAGTGA

CAGTGAGTGA

intronic

De novo

-

Yuen2017 G

PDE4B

AU3801301

chr1:
66525799-66525799

A

G

intronic

De novo

-

Yuen2017 G

PDE4B

1-0627-006

chr1:
66599104-66599104

C

A

intronic

De novo

-

Yuen2017 G

PDE4B

1-0564-003

chr1:
66470520-66470539

GTTTATTTATTTATTTATTT

GTTTATTTATTTATTT

intronic

De novo

-

Yuen2017 G

PDE4B

1-0534-004

chr1:
66799239-66799239

C

T

intronic

De novo

-

Yuen2017 G

PDE4B

1-0112-003

chr1:
66330500-66330500

C

T

intronic

De novo

-

Yuen2017 G

PDE4B

1-0661-003

chr1:
66833666-66833666

C

A

exonic

De novo

nonsynonymous SNV

NM_001037339
NM_001297442
NM_001037340
NM_001297440
NM_001297441
NM_001037341
NM_002600

c.C1064A
c.C881A
c.C1535A
c.C1304A
c.C1355A
c.C1580A
c.C1580A

p.A355E
p.A294E
p.A512E
p.A435E
p.A452E
p.A527E
p.A527E

27.3

-

Yuen2017 G

PDE4B

AU2988302

chr1:
66472433-66472433

C

G

intronic

De novo

-

Yuen2017 G

PDE4B

3-0307-000

chr1:
66865878-66865878

C

T

intergenic

De novo

-

Yuen2017 G

PDE4B

AU3900302

chr1:
66572458-66572458

G

A

intronic

De novo

-

Yuen2017 G

PDE4B

1-0158-012

chr1:
66711645-66711645

A

C

intronic

De novo

-

Yuen2017 G

PDE4B

2-1093-003

chr1:
66421680-66421680

C

G

intronic

De novo

-

Yuen2017 G

PDE4B

AU3125301

chr1:
66275142-66275142

T

G

intronic

De novo

-

Yuen2017 G

PDE4B

AU2988303

chr1:
66472433-66472433

C

G

intronic

De novo

-

Yuen2017 G

PDE4B

AU4237304

chr1:
66964296-66964296

G

T

intergenic

De novo

-

Yuen2017 G

PDE4B

AU4145303

chr1:
66468951-66468951

A

G

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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