Variant Results

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Results for "PEG10"

Variant Events: 17

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

PEG10

2-1153-003

chr7:
94365128-94365128

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

PEG10

2-1738-003

chr7:
94291005-94291005

C

T

intronic

De novo

-

-

Yuen2017 G

PEG10

MSSNG00019-003A

chr7:
94299521-94299521

T

C

downstream

De novo

-

-

Trost2022 G

PEG10

13604.p1

chr7:
94293229-94293229

G

A

exonic

De novo

nonsynonymous SNV

NM_001040152
NM_001172438
NM_001184962

c.G361A
c.G589A
c.G463A

p.V121M
p.V197M
p.V155M

15.64

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

PEG10

SSC08332

chr7:
94293229-94293229

G

A

exonic

De novo

nonsynonymous SNV

NM_001040152
NM_001172438
NM_001184962

c.G361A
c.G589A
c.G463A

p.V121M
p.V197M
p.V155M

15.64

-

Fu2022 E
Lim2017 E
Trost2022 G

PEG10

1-0412-003

chr7:
94320484-94320484

G

A

intergenic

De novo

-

-

Yuen2017 G

PEG10

AU4092302

chr7:
94456280-94456280

G

T

intergenic

De novo

-

-

Yuen2017 G

PEG10

AU3903301

chr7:
94531834-94531834

A

G

intergenic

De novo

-

-

Yuen2017 G

PEG10

1-0203-003

chr7:
94412256-94412256

G

C

intergenic

De novo

-

-

Yuen2017 G

PEG10

2-1359-004

chr7:
94413087-94413087

G

T

intergenic

De novo

-

-

Yuen2017 G

PEG10

AU3724302

chr7:
94480523-94480523

T

C

intergenic

De novo

-

-

Yuen2017 G

PEG10

1-0898-003

chr7:
94478501-94478501

G

A

intergenic

De novo

-

-

Yuen2017 G

PEG10

SP0166588

chr7:
94293127-94293127

G

A

exonic

De novo

nonsynonymous SNV

NM_001040152
NM_001172438
NM_001184962

c.G259A
c.G487A
c.G361A

p.D87N
p.D163N
p.D121N

14.97

-

Trost2022 G

PEG10

1-0524-003

chr7:
94433715-94433715

A

G

intergenic

De novo

-

-

Yuen2017 G

PEG10

AU3808305

chr7:
94407491-94407491

T

A

intergenic

De novo

-

-

Yuen2017 G

PEG10

13298.p1

chr7:
94494151-94494151

C

G

intergenic

De novo

-

-

Turner2016 G

PEG10

1-0125-003

Complex Event; expand row to view variants

De novo

unknown

-

-

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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