Variant Results

or

Results for "PNPLA7"

Variant Events: 32

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

PNPLA7

14189.p1

chr9:
140358800-140358800

G

A

exonic

De novo

stopgain

NM_152286
NM_001098537

c.C3073T
c.C3148T

p.Q1025X
p.Q1050X

33.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

PNPLA7

AU021204

chr9:
140390555-140390557

ACT

A

intronic

De novo

-

Yuen2017 G

PNPLA7

mAGRE4126

chr9:
140373597-140373597

C

CCACG

exonic

Maternal

frameshift insertion

NM_152286
NM_001098537

c.2598_2599insCGTG
c.2673_2674insCGTG

p.E867fs
p.E892fs

-

2.48E-5

Cirnigliaro2023 G

PNPLA7

mAGRE4125

chr9:
140373597-140373597

C

CCACG

exonic

Maternal

frameshift insertion

NM_152286
NM_001098537

c.2598_2599insCGTG
c.2673_2674insCGTG

p.E867fs
p.E892fs

-

2.48E-5

Cirnigliaro2023 G

PNPLA7

SP0006028

chr9:
140354969-140354969

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

PNPLA7

1-0007-003

chr9:
140431791-140431791

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PNPLA7

SP0082612

chr9:
140358749-140358749

C

G

intronic

De novo

-

Fu2022 E

PNPLA7

1-0383-003

chr9:
140377258-140377258

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PNPLA7

AU3632301

chr9:
140433855-140433855

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PNPLA7

08C72819

chr9:
140392579-140392579

G

A

exonic

De novo

stopgain

NM_152286
NM_001098537

c.C1801T
c.C1876T

p.R601X
p.R626X

40.0

2.503E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PNPLA7

SP0099065

chr9:
140400557-140400557

A

C

intronic

De novo

-

Fu2022 E

PNPLA7

1-0454-003

chr9:
140412605-140412612

TCACGCAC

TCAC

intronic

De novo

-

Yuen2017 G

PNPLA7

SSC12704

chr9:
140358800-140358800

G

A

exonic

De novo

stopgain

NM_152286
NM_001098537

c.C3073T
c.C3148T

p.Q1025X
p.Q1050X

33.0

-

Fu2022 E
Lim2017 E
Trost2022 G

PNPLA7

AU3057301

chr9:
140443283-140443283

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PNPLA7

AU056005

chr9:
140416773-140416773

A

G

intronic

De novo

-

Yuen2017 G

PNPLA7

12249_p1

chr9:
140357232-140357232

T

G

exonic

De novo

nonsynonymous SNV

NM_152286
NM_001098537

c.A3322C
c.A3397C

p.S1108R
p.S1133R

20.1

-

Fu2022 E

PNPLA7

ASC_CA_147_A

chr9:
140396070-140396070

G

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

PNPLA7

7-0224-003

chr9:
140404844-140404844

T

C

intronic

De novo

-

Trost2022 G

PNPLA7

1-0329-004

chr9:
140363829-140363829

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PNPLA7

2-1375-003

chr9:
140379487-140379487

T

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PNPLA7

2-1350-004

chr9:
140420372-140420381

GCTCACACTT

G

intronic

De novo

-

Trost2022 G

PNPLA7

A23

chr9:
140435064-140435064

G

T

intronic

De novo

-

Wu2018 G

PNPLA7

MSSNG00026-004

chr9:
140370105-140370105

C

T

intronic

De novo

-

Trost2022 G

PNPLA7

SP0046383

chr9:
140375408-140375408

G

A

intronic

De novo

-

Trost2022 G

PNPLA7

REACH000582

chr9:
140367401-140367401

C

A

intronic

De novo

-

Trost2022 G

PNPLA7

REACH000323

chr9:
140368056-140368056

T

C

intronic

De novo

-

Trost2022 G

PNPLA7

AU2255301

chr9:
140392579-140392579

G

A

exonic

stopgain

NM_152286
NM_001098537

c.C1801T
c.C1876T

p.R601X
p.R626X

40.0

2.503E-5

Zhou2022 GE

PNPLA7

13251.p1

chr9:
140417262-140417262

C

T

exonic

synonymous SNV

NM_152286
NM_001098537

c.G720A
c.G795A

p.P240P
p.P265P

-

1.0E-4

Zhou2022 GE

PNPLA7

MSSNG00025-003

chr9:
140396126-140396126

C

T

exonic

De novo

synonymous SNV

NM_152286
NM_001098537

c.G1452A
c.G1527A

p.T484T
p.T509T

-

6.0E-4

Trost2022 G
Zhou2022 GE

PNPLA7

4-0034-003

chr9:
140433118-140433118

G

A

intronic

De novo

-

Trost2022 G

PNPLA7

12249.p1

chr9:
140357232-140357232

T

G

exonic

De novo

nonsynonymous SNV

NM_152286
NM_001098537

c.A3322C
c.A3397C

p.S1108R
p.S1133R

20.1

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

PNPLA7

MSSNG00028-004

chr9:
140437771-140437771

C

T

intronic

De novo

-

Trost2022 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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