Variant Results

or

Results for "NRP2"

Variant Events: 34

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

NRP2

1-0552-004

chr2:
206659204-206659204

T

C

intronic

De novo

-

Trost2022 G

NRP2

SP0156620

chr2:
206659485-206659485

C

T

exonic

De novo

synonymous SNV

NM_201279
NM_003872
NM_201266

c.C2433T
c.C2484T
c.C2499T

p.Y811Y
p.Y828Y
p.Y833Y

-

3.299E-5

Trost2022 G

NRP2

1-0714-003

chr2:
206638578-206638578

A

G

intronic

De novo

-

Trost2022 G

NRP2

3-0116-001

chr2:
206644125-206644125

A

G

intronic

De novo

-

Trost2022 G

NRP2

SJD_52.3

chr2:
206622798-206622798

C

G

intronic

De novo

-

Trost2022 G

NRP2

13829.p1

chr2:
206587456-206587456

C

A

intronic

Mosaic

-

Dou2017 E

NRP2

5-5237-003

chr2:
206634639-206634639

A

T

intronic

De novo

-

Trost2022 G

NRP2

MSSNG00394-003

chr2:
206580881-206580881

G

C

intronic

De novo

-

Trost2022 G

NRP2

3-0056-000

chr2:
206596696-206596696

G

A

intronic

De novo

-

Trost2022 G

NRP2

1-1195-003

chr2:
206628467-206628467

C

G

exonic

De novo

nonsynonymous SNV

NM_003872
NM_018534
NM_201266
NM_201267
NM_201279

c.C2114G
c.C2114G
c.C2114G
c.C2114G
c.C2114G

p.P705R
p.P705R
p.P705R
p.P705R
p.P705R

18.0

-

Trost2022 G
Zhou2022 GE

NRP2

PN400209

chr2:
206590778-206590778

A

T

exonic

Unknown

nonsynonymous SNV

NM_003872
NM_018534
NM_201264
NM_201266
NM_201267
NM_201279

c.A962T
c.A962T
c.A962T
c.A962T
c.A962T
c.A962T

p.N321I
p.N321I
p.N321I
p.N321I
p.N321I
p.N321I

21.9

0.0033

Leblond2019 E

NRP2

PN400528

chr2:
206588629-206588629

C

T

exonic

Unknown

nonsynonymous SNV

NM_003872
NM_018534
NM_201264
NM_201266
NM_201267
NM_201279

c.C785T
c.C785T
c.C785T
c.C785T
c.C785T
c.C785T

p.A262V
p.A262V
p.A262V
p.A262V
p.A262V
p.A262V

33.0

4.0E-4

Leblond2019 E

NRP2

7-0095-003

chr2:
206812955-206812955

C

T

intergenic

De novo

-

Yuen2017 G

NRP2

AU4191302

chr2:
206837336-206837336

G

T

intergenic

De novo

-

Yuen2017 G

NRP2

5-0018-003

chr2:
206603808-206603808

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRP2

1-0025-006

chr2:
206630869-206630869

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRP2

PN400125

chr2:
206590778-206590778

A

T

exonic

Unknown

nonsynonymous SNV

NM_003872
NM_018534
NM_201264
NM_201266
NM_201267
NM_201279

c.A962T
c.A962T
c.A962T
c.A962T
c.A962T
c.A962T

p.N321I
p.N321I
p.N321I
p.N321I
p.N321I
p.N321I

21.9

0.0033

Leblond2019 E

NRP2

PN400241

chr2:
206588629-206588629

C

T

exonic

Unknown

nonsynonymous SNV

NM_003872
NM_018534
NM_201264
NM_201266
NM_201267
NM_201279

c.C785T
c.C785T
c.C785T
c.C785T
c.C785T
c.C785T

p.A262V
p.A262V
p.A262V
p.A262V
p.A262V
p.A262V

33.0

4.0E-4

Leblond2019 E

NRP2

PN400266

chr2:
206590778-206590778

A

T

exonic

Unknown

nonsynonymous SNV

NM_003872
NM_018534
NM_201264
NM_201266
NM_201267
NM_201279

c.A962T
c.A962T
c.A962T
c.A962T
c.A962T
c.A962T

p.N321I
p.N321I
p.N321I
p.N321I
p.N321I
p.N321I

21.9

0.0033

Leblond2019 E

NRP2

1-0593-003

chr2:
206788485-206788485

G

A

intergenic

De novo

-

Yuen2017 G

NRP2

AU031004

chr2:
206799928-206799928

A

G

intergenic

De novo

-

Yuen2017 G

NRP2

2-1338-003

chr2:
206830137-206830137

C

G

intergenic

De novo

-

Yuen2017 G

NRP2

SSC08761

chr2:
206617656-206617656

C

T

exonic

De novo

synonymous SNV

NM_003872
NM_018534
NM_201266
NM_201267
NM_201279

c.C2001T
c.C2001T
c.C2001T
c.C2001T
c.C2001T

p.T667T
p.T667T
p.T667T
p.T667T
p.T667T

-

Fu2022 E
Lim2017 E
Trost2022 G

NRP2

1-0160-004

chr2:
206684881-206684881

C

T

intergenic

De novo

-

Yuen2017 G

NRP2

7-0249-004

chr2:
206639025-206639038

TGAGAGAGAGAGAG

TGAGAGAGAGAG

intronic

De novo

-

Yuen2017 G

NRP2

1-0354-006

chr2:
206779097-206779097

T

A

intergenic

De novo

-

Yuen2017 G

NRP2

PN400352

chr2:
206588629-206588629

C

T

exonic

Unknown

nonsynonymous SNV

NM_003872
NM_018534
NM_201264
NM_201266
NM_201267
NM_201279

c.C785T
c.C785T
c.C785T
c.C785T
c.C785T
c.C785T

p.A262V
p.A262V
p.A262V
p.A262V
p.A262V
p.A262V

33.0

4.0E-4

Leblond2019 E

NRP2

AU1795302

chr2:
206755353-206755353

A

G

intergenic

De novo

-

Yuen2017 G

NRP2

MT_24.3

chr2:
206555242-206555242

C

G

intronic

De novo

-

Trost2022 G

NRP2

AU3190305

chr2:
206760540-206760540

A

G

intergenic

De novo

-

Yuen2017 G

NRP2

1-1024-003

chr2:
206578793-206578793

T

A

intronic

De novo

-

Trost2022 G

NRP2

3-0466-000A

chr2:
206549646-206549646

A

G

intronic

De novo

-

Trost2022 G

NRP2

13772.p1

chr2:
206617656-206617656

C

T

exonic

De novo

synonymous SNV

NM_003872
NM_018534
NM_201266
NM_201267
NM_201279

c.C2001T
c.C2001T
c.C2001T
c.C2001T
c.C2001T

p.T667T
p.T667T
p.T667T
p.T667T
p.T667T

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

NRP2

PN400504

chr2:
206590778-206590778

A

T

exonic

Unknown

nonsynonymous SNV

NM_003872
NM_018534
NM_201264
NM_201266
NM_201267
NM_201279

c.A962T
c.A962T
c.A962T
c.A962T
c.A962T
c.A962T

p.N321I
p.N321I
p.N321I
p.N321I
p.N321I
p.N321I

21.9

0.0033

Leblond2019 E

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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