Variant Results

or

Results for "NPAS3"

Variant Events: 125

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

1-0772-003

chr14:
34014051-34014051

T

A

intronic

De novo

-

Trost2022 G

NPAS3

1-0589-003

chr14:
34032651-34032651

T

C

intronic

De novo

-

Trost2022 G

NPAS3

MSSNG00343-004

chr14:
34003320-34003320

G

T

intronic

De novo

-

Trost2022 G

NPAS3

1-0772-003

chr14:
34014049-34014049

T

A

intronic

De novo

-

Trost2022 G

NPAS3

7-0442-003

chr14:
33853145-33853145

T

C

intronic

De novo

-

Trost2022 G

NPAS3

MT_38.3

chr14:
33914082-33914082

G

A

intronic

De novo

-

Trost2022 G

NPAS3

5-1012-004

chr14:
33833459-33833459

A

G

intronic

De novo

-

Trost2022 G

NPAS3

1-0153-004A

chr14:
33843922-33843922

T

G

intronic

De novo

-

Trost2022 G

NPAS3

MSSNG00045-004

chr14:
34193465-34193465

A

G

intronic

De novo

-

Trost2022 G

NPAS3

7-0119-003

chr14:
34201439-34201439

G

GCA

intronic

De novo

-

Trost2022 G

NPAS3

REACH000435

chr14:
34151242-34151242

G

A

intronic

De novo

-

Trost2022 G

NPAS3

3-0405-000

chr14:
34165715-34165715

C

T

intronic

De novo

-

Trost2022 G

NPAS3

2-1723-003

chr14:
34122111-34122111

G

A

intronic

De novo

-

Trost2022 G

NPAS3

2-1753-003

chr14:
34143839-34143839

A

G

intronic

De novo

-

Trost2022 G

NPAS3

7-0198-003

chr14:
34058244-34058244

A

T

intronic

De novo

-

Trost2022 G

NPAS3

REACH000214

chr14:
34112679-34112679

A

G

intronic

De novo

-

Trost2022 G

NPAS3

5-5046-003

chr14:
34272126-34272126

C

T

UTR3

De novo

-

Trost2022 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
Zhou2022 GE

NPAS3

3-0541-000A

chr14:
34250414-34250414

A

G

intronic

De novo

-

Trost2022 G

NPAS3

SP0223137

chr14:
34266682-34266682

A

T

exonic

De novo

nonsynonymous SNV

NM_001165893
NM_022123
NM_001164749
NM_173159

c.A1231T
c.A1225T
c.A1321T
c.A1282T

p.T411S
p.T409S
p.T441S
p.T428S

18.5

-

Trost2022 G

NPAS3

MSSNG00037-003

chr14:
34219182-34219182

C

T

intronic

De novo

-

Trost2022 G

NPAS3

5-0050-004

chr14:
34239281-34239281

T

TA

intronic

De novo

-

Trost2022 G

NPAS3

1-0305-004

chr14:
34215339-34215340

CC

TT

intronic

De novo

-

Trost2022 G

NPAS3

AU0540302

chr14:
34215457-34215457

C

T

intronic

De novo

-

Trost2022 G

NPAS3

1-0871-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

1-0387-003

chr14:
34219925-34219925

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NPAS3

7-0255-003

chr14:
33641298-33641298

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

1-0139-003

chr14:
33893926-33893926

A

T

intronic

De novo

-

Yuen2017 G

NPAS3

AU4283301

chr14:
34216829-34216829

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

1-0290-003

chr14:
33757823-33757823

A

G

intronic

De novo

-

Yuen2017 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

-

Trost2022 G
Yuen2017 G

NPAS3

1-0965-003

chr14:
33793994-33793994

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

2-1296-003

chr14:
34124745-34124745

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

2-1374-003

chr14:
34058221-34058221

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

AU002903

chr14:
33660052-33660052

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

74-0117

chr14:
34079789-34079789

A

T

intronic

De novo

-

Michaelson2012 G

NPAS3

2-1222-003

chr14:
33766904-33766904

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

NPAS3

1-0394-003

chr14:
33918625-33918625

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

74-0265

chr14:
33486058-33486058

C

A

intronic

De novo

-

Michaelson2012 G

NPAS3

AU038204

chr14:
34221647-34221647

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

AU3779301

chr14:
33720642-33720642

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

1-0547-003

chr14:
33980216-33980216

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

2-1368-003

chr14:
33914532-33914532

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

AU1940304

chr14:
33685560-33685560

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

2-1702-004

chr14:
33546547-33546547

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

2-1399-003

chr14:
33804644-33804644

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

1-0022-003

chr14:
33474804-33474804

A

T

intronic

De novo

-

Yuen2016 G

NPAS3

2-1337-003

chr14:
34240921-34240921

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

1-0022-004

chr14:
33474804-33474804

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

1-0218-004

chr14:
33876870-33876870

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

1-0651-003

chr14:
33834676-33834676

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

IBS-ASD-18253-blood-wgs-ILLUMINA

chr14:
33490493-33490493

G

A

intronic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-16053-blood-wgs-ILLUMINA

chr14:
33479940-33479940

T

C

intronic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-18763-blood-wgs-ILLUMINA

chr14:
33446228-33446228

C

G

intronic

De novo

-

Kim2024 G

NPAS3

2-1359-003

chr14:
33507046-33507046

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

IBS-ASD-17203-blood-wgs-ILLUMINA

chr14:
33431496-33431496

C

T

intronic

De novo

-

Kim2024 G

NPAS3

5-0018-003

chr14:
34382727-34382727

G

T

intergenic

De novo

-

Yuen2017 G

NPAS3

IBS-ASD-19673-blood-wgs-ILLUMINA

chr14:
33911006-33911006

C

T

intronic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-17343-blood-wgs-ILLUMINA

chr14:
33899557-33899561

TGGTA

T

intronic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-29873-blood-wgs-ILLUMINA

chr14:
33858493-33858493

A

G

intronic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-13423-blood-wgs-ILLUMINA

chr14:
33659405-33659405

T

C

intronic

De novo

-

Kim2024 G

NPAS3

1-0190-003

chr14:
34087839-34087839

G

T

intronic

De novo

-

Trost2022 G
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

IBS-ASD-17043-blood-wgs-ILLUMINA

chr14:
33649410-33649410

C

G

intronic

De novo

-

Kim2024 G

NPAS3

AU3997301

chr14:
34034845-34034845

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

IBS-ASD-19953-blood-wgs-ILLUMINA

chr14:
33613791-33613791

G

T

intronic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-17823-blood-wgs-ILLUMINA

chr14:
33533124-33533124

C

T

intronic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-4123-blood-wgs-ILLUMINA

chr14:
33516369-33516369

G

T

intronic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-18263-blood-wgs-ILLUMINA

chr14:
34170206-34170206

G

T

intronic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-29513-blood-wgs-ILLUMINA

chr14:
34162285-34162285

A

G

intronic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-35054-blood-wgs-ILLUMINA

chr14:
34079926-34079926

C

T

intronic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-35053-blood-wgs-ILLUMINA

chr14:
34079926-34079926

C

T

intronic

De novo

-

Kim2024 G

NPAS3

2-1314-003

chr14:
34199806-34199806

C

T

intronic

De novo

-

Yuen2016 G

NPAS3

IBS-ASD-17553-blood-wgs-ILLUMINA

chr14:
34016303-34016303

T

C

intronic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-29443-blood-wgs-ILLUMINA

chr14:
33996185-33996185

T

C

intronic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-9943-blood-wgs-ILLUMINA

chr14:
33953333-33953333

G

A

intronic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-17253-blood-wgs-ILLUMINA

chr14:
33924958-33924958

G

A

intronic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-17513-blood-wgs-ILLUMINA

chr14:
34343010-34343010

A

T

intergenic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-17783-blood-wgs-ILLUMINA

chr14:
34259310-34259310

C

T

intronic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-7583-blood-wgs-ILLUMINA

chr14:
34221871-34221871

G

A

intronic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-17863-blood-wgs-ILLUMINA

chr14:
34216596-34216596

G

C

intronic

De novo

-

Kim2024 G

NPAS3

IBS-ASD-29533-blood-wgs-ILLUMINA

chr14:
34210491-34210491

G

C

intronic

De novo

-

Kim2024 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
Trost2022 G
Zhou2022 GE

NPAS3

13539.p1

chr14:
33652677-33652677

C

T

intronic

De novo

-

Turner2016 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

-

Trost2022 G
Yuen2017 G

NPAS3

2-1620-004

chr14:
33675224-33675224

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

2-1398-003

chr14:
33730936-33730936

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

AU4149301

chr14:
34364382-34364382

G

A

intergenic

De novo

-

Yuen2017 G

NPAS3

AU1952305

chr14:
34117214-34117214

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

2-0028-003

chr14:
34320860-34320860

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NPAS3

2-1116-003

chr14:
33625726-33625726

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

NPAS3

AU4089301

chr14:
33977610-33977610

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

1-0628-003

chr14:
33445461-33445461

G

T

intronic

De novo

-

Trost2022 G

NPAS3

1-0180-004

chr14:
33755542-33755542

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

2-1757-003

chr14:
33492457-33492457

G

C

intronic

De novo

-

Trost2022 G

NPAS3

1-1161-003

chr14:
33408913-33408913

G

C

intronic

De novo

-

Trost2022 G

NPAS3

1-1223-003

chr14:
33432271-33432271

T

C

intronic

De novo

-

Trost2022 G

NPAS3

1-0269-005

chr14:
33741625-33741625

T

C

intronic

De novo

-

Yuen2017 G

NPAS3

1-0947-003

chr14:
33641444-33641444

T

C

intronic

De novo

-

Trost2022 G

NPAS3

3-0774-000A

chr14:
33659986-33659986

A

G

intronic

De novo

-

Trost2022 G

NPAS3

MT_19.3

chr14:
33603196-33603196

C

T

intronic

De novo

-

Trost2022 G

NPAS3

MT_156.3

chr14:
33613016-33613016

C

T

intronic

De novo

-

Trost2022 G

NPAS3

1-0627-003

chr14:
34328419-34328419

A

G

intergenic

De novo

-

Yuen2017 G

NPAS3

AU059003

chr14:
33531438-33531438

A

T

intronic

De novo

-

Trost2022 G

NPAS3

MSSNG00239-003

chr14:
33561708-33561708

G

A

intronic

De novo

-

Trost2022 G

NPAS3

2-1491-003

chr14:
33493523-33493523

G

A

intronic

De novo

-

Trost2022 G

NPAS3

1-0654-003

chr14:
33523980-33523980

G

A

intronic

De novo

-

Trost2022 G

NPAS3

MSSNG00404-003

chr14:
33782697-33782697

G

A

intronic

De novo

-

Trost2022 G

NPAS3

3-0713-000

chr14:
33799028-33799028

G

T

intronic

De novo

-

Trost2022 G

NPAS3

AU3190305

chr14:
33796089-33796089

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

3-0287-000

chr14:
33732540-33732540

G

A

intronic

De novo

-

Trost2022 G

NPAS3

AU079605

chr14:
34036690-34036690

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

2-0103-003

chr14:
33779043-33779043

G

A

intronic

De novo

-

Trost2022 G

NPAS3

AU4013303

chr14:
33429973-33429973

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

3-0109-000

chr14:
33695836-33695836

A

T

intronic

De novo

-

Trost2022 G

NPAS3

2-1740-003

chr14:
33718847-33718847

A

G

intronic

De novo

-

Trost2022 G

NPAS3

MSSNG00355-003

chr14:
33672683-33672683

A

C

intronic

De novo

-

Trost2022 G

NPAS3

AU3779304

chr14:
33833987-33833987

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPAS3

MT_40.3

chr14:
33695002-33695002

T

C

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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