Variant Results

or

or

Results for "NOS1"

Variant Events: 20

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

NOS1

5-0003-004

chr12:
117853539-117853539

A

G

intergenic

De novo

-

-

Yuen2017 G

NOS1

AU3859301

chr12:
117761943-117761943

G

A

intronic

De novo

-

-

Yuen2017 G

NOS1

1-0244-003

chr12:
117650320-117650320

C

G

UTR3

De novo

-

-

Yuen2016 G
Yuen2017 G

NOS1

2-1245-003

chr12:
117876242-117876242

G

A

intergenic

De novo

-

-

Yuen2017 G

NOS1

AU1988302

chr12:
117649447-117649447

G

A

UTR3

De novo

-

-

Yuen2017 G

NOS1

A14

chr12:
117807841-117807841

C

T

intergenic

De novo

-

-

Wu2018 G

NOS1

1-0507-003

chr12:
117677552-117677552

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

NOS1

1-0553-003

chr12:
117838434-117838434

G

A

intergenic

De novo

-

-

Yuen2017 G

NOS1

13001.p1

chr12:
117768514-117768514

G

A

exonic

De novo

nonsynonymous SNV

NM_000620
NM_001204218

c.C361T
c.C361T

p.R121W
p.R121W

20.1

-

Satterstrom2020 E

NOS1

1-0936-003

chr12:
117760895-117760895

C

T

intronic

De novo

-

-

Yuen2017 G

NOS1

2-0214-003

chr12:
117790373-117790373

G

A

intronic

De novo

-

-

Yuen2017 G

NOS1

AU4013301

chr12:
117874517-117874517

C

T

intergenic

De novo

-

-

Yuen2017 G

NOS1

2-0242-005

chr12:
117782512-117782512

C

T

intronic

De novo

-

-

Yuen2017 G

NOS1

1-0473-003

chr12:
117862478-117862478

G

A

intergenic

De novo

-

-

Yuen2017 G

NOS1

AU050603

chr12:
117853734-117853734

G

A

intergenic

De novo

-

-

Yuen2017 G

NOS1

AU061104

chr12:
117738212-117738212

T

C

intronic

De novo

-

-

Yuen2017 G

NOS1

1-0253-005

chr12:
117802494-117802494

G

A

intergenic

De novo

-

-

Yuen2017 G

NOS1

2-1341-004

chr12:
117770623-117770623

T

C

intronic

De novo

-

-

Yuen2017 G

NOS1

AU3787303

chr12:
117661691-117661691

T

A

intronic

De novo

-

-

Yuen2017 G

NOS1

2-1235-004

chr12:
117847223-117847223

G

GGTGT

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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