Variant Results

or

Results for "PDE3B"

Variant Events: 38

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

PDE3B

mAGRE3096

chr11:
14865399-14865399

C

T

exonic

Paternal

stopgain

NM_000922

c.C2347T

p.R783X

38.0

5.0E-4

Cirnigliaro2023 G

PDE3B

mAGRE3094

chr11:
14865399-14865399

C

T

exonic

Paternal

stopgain

NM_000922

c.C2347T

p.R783X

38.0

5.0E-4

Cirnigliaro2023 G

PDE3B

mAGRE2998

chr11:
14852310-14852312

CAG

C

exonic

Paternal

frameshift deletion

NM_000922

c.1875_1876del

p.T625fs

-

Cirnigliaro2023 G

PDE3B

mAGRE2997

chr11:
14852310-14852312

CAG

C

exonic

Paternal

frameshift deletion

NM_000922

c.1875_1876del

p.T625fs

-

Cirnigliaro2023 G

PDE3B

AU3849302

chr11:
14761758-14761758

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PDE3B

A218803

chr11:
14856536-14856536

C

T

exonic

De novo

nonsynonymous SNV

NM_000922

c.C2215T

p.R739C

20.7

8.322E-6

Fu2022 E

PDE3B

1-0568-003

chr11:
14690371-14690371

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PDE3B

2-1693-003

chr11:
14683185-14683185

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PDE3B

1-0436-003

chr11:
14765070-14765070

G

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PDE3B

PN400171

chr11:
14891190-14891190

C

A

exonic

De novo

nonsynonymous SNV

NM_000922

c.C3323A

p.A1108E

8.122

-

Leblond2019 E

PDE3B

AU2777302

chr11:
14812257-14812257

T

C

intronic

De novo

-

Yuen2017 G

PDE3B

2-1369-003

chr11:
14685356-14685356

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PDE3B

AU3725302

chr11:
14758980-14758980

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PDE3B

2-1359-003

chr11:
14801293-14801293

G

T

intronic

De novo

-

Yuen2017 G

PDE3B

2-1277-004

chr11:
14885147-14885149

ATC

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PDE3B

2-1359-004

chr11:
14801293-14801293

G

T

intronic

De novo

-

Yuen2017 G

PDE3B

2-1451-003

chr11:
14822872-14822872

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PDE3B

2-1464-003

chr11:
14854287-14854287

A

G

exonic

De novo

nonsynonymous SNV

NM_000922

c.A2114G

p.Q705R

19.72

8.351E-6

Trost2022 G
Zhou2022 GE

PDE3B

iHART2998

chr11:
14852310-14852312

CAG

C

exonic

Paternal

frameshift deletion

NM_000922

c.1875_1876del

p.T625fs

-

Ruzzo2019 G

PDE3B

AU4435301

chr11:
14759676-14759676

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PDE3B

iHART2997

chr11:
14852310-14852312

CAG

C

exonic

Paternal

frameshift deletion

NM_000922

c.1875_1876del

p.T625fs

-

Ruzzo2019 G

PDE3B

REACH000202

chr11:
14701323-14701323

C

T

intronic

De novo

-

Trost2022 G

PDE3B

MSSNG00355-004

chr11:
14701463-14701463

C

T

intronic

De novo

-

Trost2022 G

PDE3B

1-0597-003

chr11:
14676043-14676044

GG

AT

intronic

De novo

-

Trost2022 G

PDE3B

3-0034-000

chr11:
14680351-14680351

T

G

intronic

De novo

-

Trost2022 G

PDE3B

AU4164301

chr11:
14870120-14870120

G

A

intronic

De novo

-

Yuen2017 G

PDE3B

SP0161229

chr11:
14666544-14666544

A

G

exonic

De novo

nonsynonymous SNV

NM_000922

c.A923G

p.Y308C

16.43

-

Trost2022 G

PDE3B

1-1049-003

chr11:
14668180-14668180

T

C

intronic

De novo

-

Trost2022 G

PDE3B

REACH000544

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

PDE3B

5-0137-003

chr11:
14784345-14784345

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PDE3B

1-1036-003

chr11:
14823885-14823885

T

C

intronic

De novo

-

Trost2022 G

PDE3B

1-1121-003

chr11:
14838976-14838976

T

A

intronic

De novo

-

Trost2022 G

PDE3B

4-0095-003

chr11:
14777507-14777507

A

C

intronic

De novo

-

Trost2022 G

PDE3B

REACH000639

chr11:
14784614-14784614

T

A

intronic

De novo

-

Trost2022 G

PDE3B

1-0606-003

chr11:
14759865-14759865

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PDE3B

AU071804

chr11:
14692171-14692171

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PDE3B

1-1018-003

chr11:
14713196-14713197

CA

C

intronic

De novo

-

Trost2022 G

PDE3B

REACH000582

chr11:
14776423-14776423

C

G

intronic

De novo

-

Trost2022 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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