Variant Results

or

Results for "NPAS3"

Variant Events: 57

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

NPAS3

1-0022-003

chr14:
33474804-33474804

A

T

intronic

De novo

-

Yuen2016 G

NPAS3

10C101853

chr14:
34269619-34269619

C

G

exonic

De novo

synonymous SNV

NM_001165893
NM_022123
NM_001164749
NM_173159

c.C2016G
c.C2010G
c.C2106G
c.C2067G

p.G672G
p.G670G
p.G702G
p.G689G

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E

NPAS3

2-1337-003

chr14:
34240921-34240921

G

C

intronic

De novo

-

Yuen2017 G

NPAS3

1-0022-004

chr14:
33474804-33474804

A

T

intronic

De novo

-

Yuen2017 G

NPAS3

1-0871-003

chr14:
34202162-34202166

GAAAA

GAAAAA

intronic

De novo

-

Yuen2017 G

NPAS3

1-0218-004

chr14:
33876870-33876870

C

T

intronic

De novo

-

Yuen2017 G

NPAS3

1-0387-003

chr14:
34219925-34219925

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NPAS3

1-0651-003

chr14:
33834676-33834676

T

G

intronic

De novo

-

Yuen2017 G

NPAS3

7-0255-003

chr14:
33641298-33641298

C

T

intronic

De novo

-

Yuen2017 G

NPAS3

1-0139-003

chr14:
33893926-33893926

A

T

intronic

De novo

-

Yuen2017 G

NPAS3

2-1359-003

chr14:
33507046-33507046

T

C

intronic

De novo

-

Yuen2017 G

NPAS3

5-0018-003

chr14:
34382727-34382727

G

T

intergenic

De novo

-

Yuen2017 G

NPAS3

AU4283301

chr14:
34216829-34216829

G

T

intronic

De novo

-

Yuen2017 G

NPAS3

1-0290-003

chr14:
33757823-33757823

A

G

intronic

De novo

-

Yuen2017 G

NPAS3

1-0190-003

chr14:
34087839-34087839

G

T

intronic

De novo

-

Yuen2017 G

NPAS3

ASC_11387-1

chr14:
33836406-33836406

C

T

exonic

De novo

stopgain

NM_001165893
NM_022123
NM_001164749
NM_173159

c.C310T
c.C304T
c.C400T
c.C361T

p.R104X
p.R102X
p.R134X
p.R121X

37.0

-

Fu2022 E

NPAS3

AU3997301

chr14:
34034845-34034845

A

G

intronic

De novo

-

Yuen2017 G

NPAS3

2-1314-003

chr14:
34199806-34199806

C

T

intronic

De novo

-

Yuen2016 G

NPAS3

A9

chr14:
33514936-33514936

T

C

intronic

De novo

-

Wu2018 G

NPAS3

1-0265-004

chr14:
33577239-33577239

G

T

intronic

De novo

-

Yuen2017 G

NPAS3

AU2019302

chr14:
34019528-34019528

T

C

intronic

De novo

-

Yuen2017 G

NPAS3

14462.p1

chr14:
34269092-34269092

G

A

exonic

Mosaic

nonsynonymous SNV

NM_001165893
NM_022123
NM_001164749
NM_173159

c.G1489A
c.G1483A
c.G1579A
c.G1540A

p.D497N
p.D495N
p.D527N
p.D514N

20.6

3.362E-5

Dou2017 E

NPAS3

2J035

chr14:
34243576-34243576

G

A

exonic

De novo

nonsynonymous SNV

NM_001165893
NM_022123
NM_001164749
NM_173159

c.G796A
c.G790A
c.G886A
c.G847A

p.V266M
p.V264M
p.V296M
p.V283M

13.37

-

Fu2022 E
Satterstrom2020 E

NPAS3

1-0965-003

chr14:
33793994-33793994

G

T

intronic

De novo

-

Yuen2017 G

NPAS3

2-1296-003

chr14:
34124745-34124745

G

A

intronic

De novo

-

Yuen2017 G

NPAS3

13539.p1

chr14:
33652677-33652677

C

T

intronic

De novo

-

Turner2016 G

NPAS3

2-1374-003

chr14:
34058221-34058221

G

T

intronic

De novo

-

Yuen2017 G

NPAS3

2-0132-004

chr14:
34350161-34350161

T

C

intergenic

De novo

-

Yuen2017 G

NPAS3

2-1178-003

chr14:
33455513-33455513

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NPAS3

1-0745-003

chr14:
33733486-33733486

G

C

intronic

De novo

-

Yuen2017 G

NPAS3

2-1408-004

chr14:
33846029-33846029

T

A

intronic

De novo

-

Yuen2017 G

NPAS3

2-1620-004

chr14:
33675224-33675224

T

C

intronic

De novo

-

Yuen2017 G

NPAS3

AU002903

chr14:
33660052-33660052

G

A

intronic

De novo

-

Yuen2017 G

NPAS3

2-1398-003

chr14:
33730936-33730936

A

G

intronic

De novo

-

Yuen2017 G

NPAS3

AU4149301

chr14:
34364382-34364382

G

A

intergenic

De novo

-

Yuen2017 G

NPAS3

AU1952305

chr14:
34117214-34117214

G

A

intronic

De novo

-

Yuen2017 G

NPAS3

74-0117

chr14:
34079789-34079789

A

T

intronic

De novo

-

Michaelson2012 G

NPAS3

2-0028-003

chr14:
34320860-34320860

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NPAS3

2-1222-003

chr14:
33766904-33766904

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NPAS3

1-0394-003

chr14:
33918625-33918625

A

G

intronic

De novo

-

Yuen2017 G

NPAS3

74-0265

chr14:
33486058-33486058

C

A

intronic

De novo

-

Michaelson2012 G

NPAS3

2-1116-003

chr14:
33625726-33625726

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NPAS3

AU038204

chr14:
34221647-34221647

A

G

intronic

De novo

-

Yuen2017 G

NPAS3

AU4089301

chr14:
33977610-33977610

G

A

intronic

De novo

-

Yuen2017 G

NPAS3

1-0180-004

chr14:
33755542-33755542

C

T

intronic

De novo

-

Yuen2017 G

NPAS3

AU3779301

chr14:
33720642-33720642

T

A

intronic

De novo

-

Yuen2017 G

NPAS3

1-0547-003

chr14:
33980216-33980216

C

T

intronic

De novo

-

Yuen2017 G

NPAS3

1-0269-005

chr14:
33741625-33741625

T

C

intronic

De novo

-

Yuen2017 G

NPAS3

2-1368-003

chr14:
33914532-33914532

G

A

intronic

De novo

-

Yuen2017 G

NPAS3

1-0627-003

chr14:
34328419-34328419

A

G

intergenic

De novo

-

Yuen2017 G

NPAS3

AU1940304

chr14:
33685560-33685560

T

C

intronic

De novo

-

Yuen2017 G

NPAS3

2-1702-004

chr14:
33546547-33546547

T

C

intronic

De novo

-

Yuen2017 G

NPAS3

AU3190305

chr14:
33796089-33796089

G

A

intronic

De novo

-

Yuen2017 G

NPAS3

AU079605

chr14:
34036690-34036690

C

T

intronic

De novo

-

Yuen2017 G

NPAS3

AU4013303

chr14:
33429973-33429973

G

T

intronic

De novo

-

Yuen2017 G

NPAS3

2-1399-003

chr14:
33804644-33804644

T

C

intronic

De novo

-

Yuen2017 G

NPAS3

AU3779304

chr14:
33833987-33833987

C

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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