Variant Results

or

Results for "NOS3"

Variant Events: 16

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

NOS3

iHART2963

chr7:
150699036-150699036

A

T

exonic

Paternal

stopgain

NM_001160109
NM_001160110
NM_001160111
NM_000603

c.A1630T
c.A1630T
c.A1630T
c.A1630T

p.K544X
p.K544X
p.K544X
p.K544X

39.0

-

Ruzzo2019 G

NOS3

iHART2962

chr7:
150699036-150699036

A

T

exonic

Paternal

stopgain

NM_001160109
NM_001160110
NM_001160111
NM_000603

c.A1630T
c.A1630T
c.A1630T
c.A1630T

p.K544X
p.K544X
p.K544X
p.K544X

39.0

-

Ruzzo2019 G

NOS3

F10794-1

chr7:
150690970-150690970

G

A

exonic

De novo

nonsynonymous SNV

NM_001160109
NM_001160110
NM_001160111
NM_000603

c.G79A
c.G79A
c.G79A
c.G79A

p.G27S
p.G27S
p.G27S
p.G27S

14.07

2.926E-5

Fu2022 E

NOS3

SP0095356

chr7:
150707194-150707194

T

C

intronic

De novo

-

Fu2022 E
Trost2022 G

NOS3

TRE_487

chr7:
150707694-150707694

C

T

exonic

De novo

nonsynonymous SNV

NM_000603

c.C2695T

p.R899C

28.0

-

Fu2022 E

NOS3

SP0054977

chr7:
150698301-150698303

CCT

C

intronic

De novo

-

1.664E-5

Fu2022 E
Trost2022 G

NOS3

12362.p1

chr7:
150696412-150696412

C

T

exonic

De novo

nonsynonymous SNV

NM_001160109
NM_001160110
NM_001160111
NM_000603

c.C1091T
c.C1091T
c.C1091T
c.C1091T

p.T364M
p.T364M
p.T364M
p.T364M

12.7

8.696E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

NOS3

SP0058894

chr7:
150694018-150694018

G

C

intronic

-

Zhou2022 GE

NOS3

G01-GEA-134-HI

chr7:
150696261-150696261

C

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

NOS3

2-1417-003

chr7:
150695838-150695838

C

CG

intronic

De novo

-

Trost2022 G
Yuen2017 G

NOS3

mAGRE2963

chr7:
150699036-150699036

A

T

exonic

Paternal

stopgain

NM_001160109
NM_001160110
NM_001160111
NM_000603

c.A1630T
c.A1630T
c.A1630T
c.A1630T

p.K544X
p.K544X
p.K544X
p.K544X

39.0

-

Cirnigliaro2023 G

NOS3

mAGRE2962

chr7:
150699036-150699036

A

T

exonic

Paternal

stopgain

NM_001160109
NM_001160110
NM_001160111
NM_000603

c.A1630T
c.A1630T
c.A1630T
c.A1630T

p.K544X
p.K544X
p.K544X
p.K544X

39.0

-

Cirnigliaro2023 G

NOS3

4-0017-003

chr7:
150707994-150707994

G

A

exonic

De novo

synonymous SNV

NM_000603

c.G2904A

p.L968L

10.61

1.759E-5

Trost2022 G
Zhou2022 GE

NOS3

SSC04909

chr7:
150696412-150696412

C

T

exonic

De novo

nonsynonymous SNV

NM_001160109
NM_001160110
NM_001160111
NM_000603

c.C1091T
c.C1091T
c.C1091T
c.C1091T

p.T364M
p.T364M
p.T364M
p.T364M

12.7

8.696E-6

Fu2022 E
Lim2017 E
Trost2022 G

NOS3

80001100864

chr7:
150706436-150706436

G

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

NOS3

1-0898-003

chr7:
150692305-150692305

C

T

exonic

De novo

nonsynonymous SNV

NM_001160109
NM_001160110
NM_001160111
NM_000603

c.C173T
c.C173T
c.C173T
c.C173T

p.P58L
p.P58L
p.P58L
p.P58L

10.84

8.527E-6

Trost2022 G
Yuen2017 G
Zhou2022 GE

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
	More