Variant Results

or

or

Results for "PDE3A"

Variant Events: 28

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

PDE3A

AU3703302

chr12:
20697446-20697446

C

A

intronic

De novo

-

-

Yuen2017 G

PDE3A

SP0005978

chr12:
20522510-20522510

G

A

exonic

De novo

nonsynonymous SNV

NM_000921

c.G292A

p.A98T

9.78

-

Fu2022 E

PDE3A

5-0133-003

chr12:
20657271-20657286

GAGTCTGATACATTTT

G

intronic

De novo

-

-

Yuen2017 G

PDE3A

SP0028576

chr12:
20766461-20766461

C

A

exonic

De novo

nonsynonymous SNV

NM_001244683
NM_000921

c.C130A
c.C1096A

p.L44I
p.L366I

21.2

-

Fu2022 E

PDE3A

5-0077-004

chr12:
20707312-20707312

A

AT

intronic

De novo

-

-

Yuen2017 G

PDE3A

1-0367-003

chr12:
20787487-20787487

G

A

intronic

De novo

-

-

Yuen2017 G

PDE3A

2-1318-004

chr12:
20704688-20704688

G

GA

intronic

De novo

-

-

Yuen2017 G

PDE3A

08C76519

chr12:
20807092-20807092

C

T

exonic

De novo

nonsynonymous SNV

NM_001244683
NM_000921

c.C2171T
c.C3137T

p.A724V
p.A1046V

2.448

-

Fu2022 E
Satterstrom2020 E

PDE3A

1-0568-003

chr12:
20607370-20607370

C

A

intronic

De novo

-

-

Yuen2017 G

PDE3A

AU2792302

chr12:
20534712-20534712

T

C

intronic

De novo

-

-

Yuen2017 G

PDE3A

2-1425-003

chr12:
20774159-20774159

C

A

intronic

De novo

-

-

Yuen2017 G

PDE3A

AU2140306

chr12:
20745854-20745854

G

A

intronic

De novo

-

-

Yuen2017 G

PDE3A

1-0272-003

chr12:
20696212-20696216

CCTAA

C

intronic

De novo

-

-

Yuen2017 G

PDE3A

2-1485-003

chr12:
20704727-20704727

G

GTTGGTGTGC

intronic

De novo

-

-

Yuen2017 G

PDE3A

2-0149-005

chr12:
20704707-20704707

A

AG

intronic

De novo

-

-

Yuen2017 G

PDE3A

1-0354-006

chr12:
20704707-20704707

A

AG

intronic

De novo

-

-

Yuen2017 G

PDE3A

1-0377-003

chr12:
20807092-20807092

C

T

exonic

De novo

nonsynonymous SNV

NM_001244683
NM_000921

c.C2171T
c.C3137T

p.A724V
p.A1046V

2.448

-

Yuen2017 G

PDE3A

AU3371301

chr12:
20721008-20721008

A

G

intronic

De novo

-

-

Yuen2017 G

PDE3A

2-1180-003

chr12:
20792026-20792026

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

PDE3A

2-0135-003

chr12:
20704678-20704678

T

TCG

intronic

De novo

-

-

Yuen2017 G

PDE3A

AU3635301

chr12:
20763582-20763582

C

T

intronic

De novo

-

-

Yuen2017 G

PDE3A

1-0272-004

chr12:
20696212-20696216

CCTAA

C

intronic

De novo

-

-

Yuen2017 G

PDE3A

74-0265

chr12:
20809162-20809162

C

A

intronic

De novo

-

-

Michaelson2012 G

PDE3A

AU3874301

chr12:
20726044-20726044

T

G

intronic

De novo

-

-

Yuen2017 G

PDE3A

1-0169-003

chr12:
20652101-20652101

A

G

intronic

De novo

-

-

Yuen2017 G

PDE3A

1-0181-004

chr12:
20671875-20671875

A

G

intronic

De novo

-

-

Yuen2017 G

PDE3A

2-1644-003

chr12:
20690520-20690520

G

A

intronic

De novo

-

-

Yuen2017 G

PDE3A

1-0715-003

chr12:
20546860-20546861

AG

A

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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