Variant Results

or

Results for "PDE1C"

Variant Events: 58

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

PDE1C

2-1174-005B

chr7:
32347441-32347441

A

AT

intergenic

De novo

-

Yuen2017 G

PDE1C

2-1283-003

chr7:
32393196-32393196

T

A

intergenic

De novo

-

Yuen2017 G

PDE1C

1-0412-003

chr7:
32393247-32393247

A

G

intergenic

De novo

-

Yuen2017 G

PDE1C

1-0126-003

chr7:
32054602-32054602

C

T

intronic

De novo

-

Yuen2017 G

PDE1C

2-1176-003

chr7:
32393247-32393247

A

G

intergenic

De novo

-

Yuen2017 G

PDE1C

1-0835-003

chr7:
32003463-32003463

T

C

intronic

De novo

-

Yuen2017 G

PDE1C

2-0057-003

chr7:
32393211-32393211

T

A

intergenic

De novo

-

Yuen2017 G

PDE1C

5-0055-003

chr7:
31834379-31834379

A

G

intronic

De novo

-

Yuen2017 G

PDE1C

AU3057301

chr7:
32008259-32008259

G

A

intronic

De novo

-

Yuen2017 G

PDE1C

2-1174-006

chr7:
32347441-32347441

A

AT

intergenic

De novo

-

Yuen2017 G

PDE1C

2-1174-006

chr7:
32262067-32262067

T

C

intronic

De novo

-

Yuen2017 G

PDE1C

AU3724302

chr7:
32023522-32023522

T

C

intronic

De novo

-

Yuen2017 G

PDE1C

2-1296-003

chr7:
32241535-32241535

C

T

intronic

De novo

-

Yuen2017 G

PDE1C

1-0300-003

chr7:
32442240-32442240

C

T

intergenic

De novo

-

Yuen2017 G

PDE1C

AU1987302

chr7:
32348178-32348178

C

T

intergenic

De novo

-

Yuen2017 G

PDE1C

5-0084-003

chr7:
32393196-32393196

T

A

intergenic

De novo

-

Yuen2017 G

PDE1C

72-1397

chr7:
31917646-31917646

C

G

exonic

Inherited

nonsynonymous SNV

NM_001191056
NM_001191057
NM_001191058
NM_001191059
NM_005020

c.G429C
c.G429C
c.G609C
c.G429C
c.G429C

p.M143I
p.M143I
p.M203I
p.M143I
p.M143I

19.19

-

Patowary2019 E

PDE1C

5-0147-003

chr7:
31867333-31867333

G

C

intronic

De novo

-

Yuen2017 G

PDE1C

5-0050-004

chr7:
32393196-32393196

T

A

intergenic

De novo

-

Yuen2017 G

PDE1C

2-1278-003

chr7:
32094245-32094245

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PDE1C

AU3302302

chr7:
32103873-32103873

C

T

intronic

De novo

-

Yuen2017 G

PDE1C

2-1333-003

chr7:
32200191-32200191

C

T

intronic

De novo

-

Yuen2017 G

PDE1C

3-0438-000

chr7:
32240156-32240156

C

T

intronic

De novo

-

Yuen2016 G

PDE1C

1-0024-003

chr7:
32226459-32226459

G

C

intronic

De novo

-

Yuen2017 G

PDE1C

1-0075-003

chr7:
31969352-31969352

A

C

intronic

De novo

-

Yuen2017 G

PDE1C

13322.p1

chr7:
31855578-31855578

G

T

exonic

Mosaic

nonsynonymous SNV

NM_001191056
NM_001191057
NM_001191058
NM_001191059
NM_005020

c.C1773A
c.C1773A
c.C1953A
c.C1773A
c.C1773A

p.N591K
p.N591K
p.N651K
p.N591K
p.N591K

6.943

-

Krupp2017 E

PDE1C

2-1266-003

chr7:
31875463-31875477

GCACACACACACACA

GCACACACACACA

intronic

De novo

-

Yuen2017 G

PDE1C

1-0271-003

chr7:
32393196-32393196

T

A

intergenic

De novo

-

Yuen2017 G

PDE1C

7-0059-003

chr7:
32393196-32393196

T

A

intergenic

De novo

-

Yuen2017 G

PDE1C

PN400186

chr7:
31867960-31867960

G

A

exonic

Unknown

nonsynonymous SNV

NM_001191056
NM_001191057
NM_001191058
NM_001191059
NM_005020

c.C1231T
c.C1231T
c.C1411T
c.C1231T
c.C1231T

p.P411S
p.P411S
p.P471S
p.P411S
p.P411S

32.0

-

Leblond2019 E

PDE1C

SP0031954

chr7:
32110632-32110632

A

G

UTR5

De novo

-

Fu2022 E

PDE1C

1-0458-003

chr7:
32347441-32347441

A

AT

intergenic

De novo

-

Yuen2017 G

PDE1C

2-0242-004

chr7:
32423012-32423012

A

C

intergenic

De novo

-

Yuen2017 G

PDE1C

2-1501-003

chr7:
31800442-31800442

A

G

intronic

De novo

-

Yuen2017 G

PDE1C

F2-003

chr7:
32209524-32209524

G

C

exonic

Paternal

nonsynonymous SNV

NM_001191058

c.C181G

p.L61V

18.88

2.608E-5

Vaags2012 E

PDE1C

2-1066-003

chr7:
31800701-31800701

C

CCTCTT

intronic

De novo

-

Yuen2017 G

PDE1C

1-0534-004

chr7:
32303517-32303521

GTCTC

G

intronic

De novo

-

Yuen2017 G

PDE1C

AU031203

chr7:
32144358-32144358

C

T

intronic

De novo

-

Yuen2017 G

PDE1C

2-1416-004

chr7:
32347441-32347441

A

AT

intergenic

De novo

-

Yuen2017 G

PDE1C

1-0161-004

chr7:
32393211-32393211

T

A

intergenic

De novo

-

Yuen2017 G

PDE1C

AU4284301

chr7:
32447341-32447341

A

G

intergenic

De novo

-

Yuen2017 G

PDE1C

1-0595-004

chr7:
31800701-31800701

C

CCTCTT

intronic

De novo

-

Yuen2017 G

PDE1C

1-0744-003

chr7:
32301106-32301106

C

T

intronic

De novo

-

Yuen2017 G

PDE1C

2-1292-003

chr7:
32352209-32352209

A

C

intergenic

De novo

-

Yuen2017 G

PDE1C

AU2988303

chr7:
31968554-31968554

C

T

intronic

De novo

-

Yuen2017 G

PDE1C

12795.p1

chr7:
32366004-32366004

G

A

intergenic

De novo

-

Turner2016 G

PDE1C

1-0401-003

chr7:
32018207-32018207

A

C

intronic

De novo

-

Yuen2017 G

PDE1C

2-1261-003

chr7:
31940454-31940454

T

C

intronic

De novo

-

Yuen2017 G

PDE1C

11456.p1

chr7:
32151326-32151326

A

G

intronic

De novo

-

Turner2016 G

PDE1C

AU2495301

chr7:
32300336-32300336

A

G

intronic

De novo

-

Yuen2017 G

PDE1C

1-0321-004

chr7:
32393211-32393211

T

A

intergenic

De novo

-

Yuen2017 G

PDE1C

AU2140305

chr7:
32252892-32252892

G

A

intronic

De novo

-

Yuen2017 G

PDE1C

AU3368302

chr7:
32420866-32420866

G

A

intergenic

De novo

-

Yuen2017 G

PDE1C

A9

chr7:
32430235-32430237

GAT

G

intergenic

De novo

-

Wu2018 G

PDE1C

2-0202-004

chr7:
31991538-31991538

C

A

intronic

De novo

-

Yuen2017 G

PDE1C

5-0015-003

chr7:
32203100-32203100

G

A

intronic

De novo

-

Yuen2017 G

PDE1C

2-1605-003

chr7:
32042492-32042492

T

C

intronic

De novo

-

Yuen2017 G

PDE1C

AU3721302

chr7:
32369840-32369840

G

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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