Variant Results

or

Results for "NPFFR2"

Variant Events: 26

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

NPFFR2

AU4093301

chr4:
73098224-73098224

A

T

intergenic

De novo

-

Yuen2017 G

NPFFR2

1-0994-003

chr4:
73120530-73120530

G

T

intergenic

De novo

-

Yuen2017 G

NPFFR2

MSSNG00358-003

chr4:
72976804-72976804

A

G

intronic

De novo

-

Trost2022 G

NPFFR2

MSSNG00004-003

chr4:
73000367-73000367

G

A

intronic

De novo

-

Trost2022 G

NPFFR2

2-1091-003

chr4:
72927559-72927559

T

C

intronic

De novo

-

Trost2022 G

NPFFR2

7-0465-003

chr4:
72953584-72953584

A

C

intronic

De novo

-

Trost2022 G

NPFFR2

SSC00625

chr4:
72994491-72994491

G

A

exonic

De novo

nonsynonymous SNV

NM_004885
NM_053036
NM_001144756

c.G489A
c.G183A
c.G192A

p.M163I
p.M61I
p.M64I

8.023

-

Fu2022 E
Lim2017 E
Trost2022 G

NPFFR2

1-1230-003

chr4:
72898826-72898826

G

C

intronic

De novo

-

Trost2022 G

NPFFR2

2-1647-003

chr4:
72915203-72915203

A

C

intronic

De novo

-

Trost2022 G

NPFFR2

11412.p1

Complex Event; expand row to view variants

De novo

nonsynonymous SNV

NM_004885
NM_053036
NM_001144756
NM_004885
NM_053036
NM_001144756

c.G489A
c.G183A
c.G192A
c.G489C
c.G183C
c.G192C

p.M163I
p.M61I
p.M64I
p.M163I
p.M61I
p.M64I

8.023

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

NPFFR2

AU057405

chr4:
73036968-73036968

C

A

intergenic

De novo

-

Yuen2017 G

NPFFR2

AU3702306

chr4:
73070668-73070671

ATTT

ATTTT

intergenic

De novo

-

Yuen2017 G

NPFFR2

80001102141

chr4:
72994533-72994533

T

C

exonic

De novo

synonymous SNV

NM_004885
NM_053036
NM_001144756

c.T531C
c.T225C
c.T234C

p.H177H
p.H75H
p.H78H

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NPFFR2

2-1581-003

chr4:
73074050-73074058

ATAATTAAT

ATAAT

intergenic

De novo

-

Yuen2017 G

NPFFR2

13393.p1

chr4:
73115333-73115333

G

A

intergenic

De novo

-

Turner2016 G

NPFFR2

13094.p1

chr4:
72954113-72954113

T

TA

intronic

De novo

-

Wilfert2021 G

NPFFR2

mAGRE2321

chr4:
73013007-73013008

CA

C

exonic

Maternal

frameshift deletion

NM_004885
NM_053036
NM_001144756

c.1048delA
c.742delA
c.751delA

p.R350fs
p.R248fs
p.R251fs

-

8.238E-5

Cirnigliaro2023 G

NPFFR2

12888.p1

chr4:
72946113-72946115

CTC

GTT

intronic

Maternal

-

Wilfert2021 G

NPFFR2

mAGRE2320

chr4:
73013007-73013008

CA

C

exonic

Maternal

frameshift deletion

NM_004885
NM_053036
NM_001144756

c.1048delA
c.742delA
c.751delA

p.R350fs
p.R248fs
p.R251fs

-

8.238E-5

Cirnigliaro2023 G

NPFFR2

1-0567-004

chr4:
72908623-72908623

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NPFFR2

iHART2320

chr4:
73013007-73013008

CA

C

exonic

Maternal

frameshift deletion

NM_004885
NM_053036
NM_001144756

c.1048delA
c.742delA
c.751delA

p.R350fs
p.R248fs
p.R251fs

-

8.238E-5

Ruzzo2019 G

NPFFR2

iHART2321

chr4:
73013007-73013008

CA

C

exonic

Maternal

frameshift deletion

NM_004885
NM_053036
NM_001144756

c.1048delA
c.742delA
c.751delA

p.R350fs
p.R248fs
p.R251fs

-

8.238E-5

Ruzzo2019 G

NPFFR2

SP0001493

chr4:
73013509-73013509

A

G

exonic

De novo

nonsynonymous SNV

NM_004885
NM_053036
NM_001144756

c.A1549G
c.A1243G
c.A1252G

p.T517A
p.T415A
p.T418A

12.31

3.587E-5

Fu2022 E
Zhou2022 GE

NPFFR2

2-0003-003

chr4:
73093669-73093669

T

A

intergenic

De novo

-

Yuen2017 G

NPFFR2

SP0125666

chr4:
72994609-72994609

A

G

exonic

nonsynonymous SNV

NM_004885
NM_053036
NM_001144756

c.A607G
c.A301G
c.A310G

p.I203V
p.I101V
p.I104V

9.125

-

Zhou2022 GE

NPFFR2

7-0024-003

chr4:
72973200-72973200

A

G

intronic

De novo

-

Trost2022 G
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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