Variant Results

or

or

Results for "NPR1"

Variant Events: 14

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

NPR1

SP0095972

chr1:
153661539-153661539

G

A

exonic

De novo

nonsynonymous SNV

NM_000906

c.G2528A

p.R843H

18.25

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NPR1

2047-24322

chr1:
153659558-153659558

G

A

exonic

Inherited

nonsynonymous SNV

NM_000906

c.G1930A

p.V644I

21.6

-

Callaghan2019 G

NPR1

SP0024866

chr1:
153661905-153661905

C

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G

NPR1

SP0052444

chr1:
153662429-153662429

C

T

exonic

De novo

synonymous SNV

NM_000906

c.C2905T

p.L969L

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NPR1

646-05-104479

chr1:
153651622-153651622

G

T

exonic

De novo

nonsynonymous SNV

NM_000906

c.G38T

p.R13L

12.51

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NPR1

AU3605304

chr1:
153665882-153665882

C

T

exonic

Maternal

stopgain

NM_000906

c.C3178T

p.R1060X

44.0

Cirnigliaro2023 G

NPR1

AU3605303

chr1:
153665882-153665882

C

T

exonic

Maternal

stopgain

NM_000906

c.C3178T

p.R1060X

44.0

Cirnigliaro2023 G

NPR1

SP0016229

chr1:
153662490-153662522

AGGCCAAGGCTTCGCAAGGGAAACTTGTCCCCT

A

intronic

De novo

-

-

Fu2022 E

NPR1

AU4231301

chr1:
153696357-153696357

T

C

intergenic

De novo

-

-

Yuen2017 G

NPR1

SP0001995

chr1:
153651635-153651635

C

T

exonic

De novo

synonymous SNV

NM_000906

c.C51T

p.L17L

-

-

Feliciano2019 E
Trost2022 G
Zhou2022 GE

NPR1

1-1016-003A

chr1:
153657643-153657643

C

A

intronic

De novo

-

-

Trost2022 G

NPR1

1644002

chr1:
153662149-153662149

G

T

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

NPR1

A7

chr1:
153687576-153687576

T

C

intergenic

De novo

-

-

Wu2018 G

NPR1

AU4152303

chr1:
153678826-153678826

G

A

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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