Variant Results

or

Results for "NRG1"

Variant Events: 87

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

NRG1

AU3175303

chr8:
33042430-33042430

T

A

intergenic

De novo

-

Yuen2017 G

NRG1

AU3777302

chr8:
31731225-31731225

T

C

intronic

De novo

-

Yuen2017 G

NRG1

AU4219302

chr8:
32184402-32184402

G

A

intronic

De novo

-

Yuen2017 G

NRG1

AU4219302

chr8:
32949301-32949301

C

T

intergenic

De novo

-

Yuen2017 G

NRG1

2-1346-003

chr8:
31740016-31740016

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NRG1

AU4314302

chr8:
33053391-33053391

G

A

intergenic

De novo

-

Yuen2017 G

NRG1

2-0309-005

chr8:
32991776-32991776

A

C

intergenic

De novo

-

Yuen2017 G

NRG1

3-0447-000

chr8:
32952755-32952755

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NRG1

AU3937301

chr8:
32115034-32115034

G

A

intronic

De novo

-

Yuen2017 G

NRG1

AU2075302

chr8:
31746553-31746553

A

G

intronic

De novo

-

Yuen2017 G

NRG1

1-0259-003

chr8:
32576964-32576964

C

A

intronic

De novo

-

Yuen2017 G

NRG1

7-0223-003

chr8:
33193865-33193865

C

T

intergenic

De novo

-

Yuen2017 G

NRG1

2-0295-003

chr8:
32703539-32703539

T

C

intergenic

De novo

-

Yuen2017 G

NRG1

2-0295-003

chr8:
32643005-32643005

T

TCAC

intergenic

De novo

-

Yuen2017 G

NRG1

1-0971-003

chr8:
32085345-32085350

CAAAAA

CAAAA

intronic

De novo

-

Yuen2017 G

NRG1

AU3634301

chr8:
32609634-32609634

A

G

intronic

De novo

-

Yuen2017 G

NRG1

3-0018-000

chr8:
32382550-32382550

G

A

intronic

De novo

-

Yuen2017 G

NRG1

7-0100-004

chr8:
33009601-33009601

G

A

intergenic

De novo

-

Yuen2017 G

NRG1

2-1425-004

chr8:
32328103-32328103

C

G

intronic

De novo

-

Yuen2017 G

NRG1

AU4452302

chr8:
33124121-33124121

G

A

intergenic

De novo

-

Yuen2017 G

NRG1

1-0255-003

chr8:
33064482-33064482

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NRG1

2-1486-003

chr8:
32350738-32350739

AC

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NRG1

AU2139305

chr8:
31621739-31621739

A

T

intronic

De novo

-

Yuen2017 G

NRG1

AU4072303

chr8:
32902480-32902480

G

T

intergenic

De novo

-

Yuen2017 G

NRG1

AU3763305

chr8:
32529934-32529934

G

A

intronic

De novo

-

Yuen2017 G

NRG1

AU3840302

chr8:
32356927-32356927

G

A

intronic

De novo

-

Yuen2017 G

NRG1

2-1163-003

chr8:
32717680-32717680

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NRG1

AU4310301

chr8:
33110039-33110039

A

G

intergenic

De novo

-

Yuen2017 G

NRG1

SP0138719

chr8:
31497999-31497999

G

A

exonic

De novo

nonsynonymous SNV

NM_013962

c.G499A

p.V167M

20.4

-

Fu2022 E

NRG1

2-1525-003

chr8:
31868610-31868610

A

T

intronic

De novo

-

Yuen2017 G

NRG1

AU1542303

chr8:
32124905-32124905

A

T

intronic

De novo

-

Yuen2017 G

NRG1

AU4239301

chr8:
32749062-32749069

CAGTTAGT

CAGT

intergenic

De novo

-

Yuen2017 G

NRG1

3-0209-000

chr8:
33141700-33141700

G

A

intergenic

De novo

-

Yuen2017 G

NRG1

12449.p1

chr8:
31540489-31540489

C

T

intronic

De novo

-

Turner2016 G

NRG1

AU026604

chr8:
32116132-32116147

TGAGAGAGAGAGAGAG

TGAGAGAGAGAGAGAGAG

intronic

De novo

-

Yuen2017 G

NRG1

1-0231-004

chr8:
32187163-32187163

C

T

intronic

De novo

-

Yuen2017 G

NRG1

13515.p1

chr8:
33008704-33008704

C

A

intergenic

De novo

-

Turner2016 G

NRG1

1-0524-003

chr8:
32430180-32430180

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NRG1

1-0215-006

chr8:
31811029-31811029

G

A

intronic

De novo

-

Yuen2017 G

NRG1

SP0058244

chr8:
32453573-32453573

C

A

intronic

De novo

-

Fu2022 E

NRG1

14642.p1

chr8:
31756475-31756475

G

T

intronic

De novo

-

Turner2016 G

NRG1

12011.p1

chr8:
33005584-33005584

G

A

intergenic

De novo

-

Turner2016 G

NRG1

AU1355301

chr8:
32657761-32657761

T

C

intergenic

De novo

-

Yuen2017 G

NRG1

AU073005

chr8:
31668988-31668995

ATTTTTTT

ATTTTTTTT

intronic

De novo

-

Yuen2017 G

NRG1

2-0303-004

chr8:
31700857-31700857

C

T

intronic

De novo

-

Yuen2017 G

NRG1

1-0248-003

chr8:
31713091-31713091

G

A

intronic

De novo

-

Yuen2017 G

NRG1

AU3777301

chr8:
31596616-31596616

C

T

intronic

De novo

-

Yuen2017 G

NRG1

A10

chr8:
33047537-33047537

T

A

intergenic

De novo

-

Wu2018 G

NRG1

SJD_49

chr8:
32617875-32617875

C

G

exonic

Paternal

nonsynonymous SNV

NM_001159996
NM_001160004
NM_001160008
NM_013957
NM_013960
NM_013964
NM_013956

c.C757G
c.C1210G
c.C1210G
c.C1210G
c.C1219G
c.C1219G
c.C1234G

p.H253D
p.H404D
p.H404D
p.H404D
p.H407D
p.H407D
p.H412D

19.2

8.251E-6

Toma2013 E

NRG1

1-0125-003

chr8:
31715386-31715386

C

T

intronic

De novo

-

Yuen2017 G

NRG1

1-0862-003

chr8:
32799084-32799099

TTGATGTCAGGTAGTA

T

intergenic

De novo

-

Yuen2017 G

NRG1

5-0095-003

chr8:
32703799-32703799

G

A

intergenic

De novo

-

Yuen2017 G

NRG1

2-1398-003

chr8:
32707560-32707560

G

A

intergenic

De novo

-

Yuen2017 G

NRG1

AU4149301

chr8:
32229530-32229530

G

A

intronic

De novo

-

Yuen2017 G

NRG1

AU005213

chr8:
32611272-32611272

A

G

intronic

De novo

-

Yuen2017 G

NRG1

AU072904

chr8:
31690509-31690509

C

T

intronic

De novo

-

Yuen2017 G

NRG1

AU4093301

chr8:
32620151-32620151

C

A

intronic

De novo

-

Yuen2017 G

NRG1

2-0289-004

chr8:
32026915-32026915

C

T

intronic

De novo

-

Yuen2017 G

NRG1

AU4183301

chr8:
31743575-31743575

A

G

intronic

De novo

-

Yuen2017 G

NRG1

AU4284301

chr8:
31536504-31536504

G

A

intronic

De novo

-

Yuen2017 G

NRG1

1-0142-005

chr8:
33027376-33027376

G

A

intergenic

De novo

-

Yuen2017 G

NRG1

AU4032306

chr8:
31607777-31607777

T

C

intronic

De novo

-

Yuen2017 G

NRG1

2-1246-003

chr8:
32572391-32572391

A

G

intronic

De novo

-

Yuen2017 G

NRG1

1-0112-003

chr8:
31501379-31501379

G

A

intronic

De novo

-

Yuen2017 G

NRG1

AU3900302

chr8:
32622433-32622433

G

A

UTR3

De novo

-

Yuen2017 G

NRG1

1-0161-004

chr8:
32887682-32887682

G

A

intergenic

De novo

-

Yuen2017 G

NRG1

AU3779304

chr8:
32027943-32027943

G

A

intronic

De novo

-

Yuen2017 G

NRG1

2-0318-003

chr8:
33210797-33210797

G

A

intergenic

De novo

-

Yuen2017 G

NRG1

1-0025-004

chr8:
32924460-32924460

C

T

intergenic

De novo

-

Yuen2017 G

NRG1

1-0541-004

chr8:
32825768-32825768

C

T

intergenic

De novo

-

Yuen2017 G

NRG1

AU039304

chr8:
32337090-32337090

G

C

intronic

De novo

-

Yuen2017 G

NRG1

1-0225-003

chr8:
31778203-31778203

T

A

intronic

De novo

-

Yuen2017 G

NRG1

AU3913302

chr8:
32392284-32392284

G

A

intronic

De novo

-

Yuen2017 G

NRG1

1-0559-005

chr8:
32291289-32291289

G

A

intronic

De novo

-

Yuen2017 G

NRG1

AU1725302

chr8:
32465601-32465639

GTTTTTTTTGTTTTTTTTTTTTTTGTTTTTTTTTTTTTT

GTTTTTTTTGTTTTTTTTTTTTTT

intronic

De novo

-

Yuen2017 G

NRG1

2-0323-003

chr8:
32221132-32221132

C

T

intronic

De novo

-

Yuen2017 G

NRG1

2-1592-003

chr8:
32062766-32062766

A

G

intronic

De novo

-

Yuen2017 G

NRG1

AU4029301

chr8:
31876536-31876536

A

G

intronic

De novo

-

Yuen2017 G

NRG1

2-1085-003

chr8:
32124033-32124033

A

C

intronic

De novo

-

Yuen2017 G

NRG1

2-1715-003

chr8:
32154722-32154722

C

CTAG

intronic

De novo

-

Yuen2017 G

NRG1

1-0534-003

chr8:
31626014-31626014

T

C

intronic

De novo

-

Yuen2017 G

NRG1

2-0149-003

chr8:
32171942-32171942

G

A

intronic

De novo

-

Yuen2017 G

NRG1

2-1290-004

chr8:
32834741-32834741

T

A

intergenic

De novo

-

Yuen2017 G

NRG1

2-1178-003

chr8:
32779781-32779781

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NRG1

2-1120-003

chr8:
31782635-31782635

T

TAA

intronic

De novo

-

Yuen2017 G

NRG1

7-0127-003

chr8:
33038849-33038849

T

C

intergenic

De novo

-

Yuen2017 G

NRG1

1-0065-004

chr8:
31771725-31771725

T

G

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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