Variant Results

or

Results for "GPD2"

Variant Events: 49

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

GPD2

7-0023-003

chr2:
157610311-157610311

A

G

intergenic

De novo

-

Yuen2017 G

GPD2

1-0045-003

chr2:
157373815-157373815

G

GACAT

intronic

De novo

-

Yuen2017 G

GPD2

1-0282-003

chr2:
157303568-157303568

C

T

intronic

De novo

-

Yuen2017 G

GPD2

2-1134-003

chr2:
157390719-157390719

A

C

intronic

De novo

-

Yuen2017 G

GPD2

AU060004

chr2:
157627222-157627223

AC

A

intergenic

De novo

-

Yuen2017 G

GPD2

2-1507-003

chr2:
157685133-157685133

A

G

intergenic

De novo

-

Yuen2017 G

GPD2

2-1561-003

chr2:
157357415-157357415

A

G

intronic

De novo

-

Yuen2017 G

GPD2

1-0382-004

chr2:
157432012-157432012

T

C

intronic

De novo

-

Yuen2017 G

GPD2

AU1355301

chr2:
157435878-157435878

G

A

intronic

De novo

-

Yuen2017 G

GPD2

2-1506-003

chr2:
157938439-157938441

TAC

T

intergenic

De novo

-

Yuen2017 G

GPD2

09C98481

chr2:
157406078-157406078

G

C

intronic

De novo

-

2.0E-4

Satterstrom2020 E

GPD2

SJD_10

chr2:
157427677-157427677

C

T

exonic

Maternal

nonsynonymous SNV

NM_000408
NM_001083112

c.C1640T
c.C1640T

p.T547I
p.T547I

18.25

-

Toma2013 E

GPD2

AU1988301

chr2:
157422536-157422537

CT

CTT

intronic

De novo

-

Yuen2017 G

GPD2

A31

chr2:
157693536-157693536

C

A

intergenic

De novo

-

Wu2018 G

GPD2

5-0095-003

chr2:
157825441-157825441

T

C

intergenic

De novo

-

Yuen2017 G

GPD2

1-0330-003

chr2:
157847359-157847359

G

GAAAT

intergenic

De novo

-

Yuen2017 G

GPD2

AU015903

chr2:
157841627-157841627

C

T

intergenic

De novo

-

Yuen2017 G

GPD2

AU3794301

chr2:
157844054-157844059

ACTTTC

AC

intergenic

De novo

-

Yuen2017 G

GPD2

2-1170-003

chr2:
158089316-158089321

TTTTTA

T

intergenic

De novo

-

Yuen2017 G

GPD2

A9

chr2:
158049788-158049788

C

T

intergenic

De novo

-

Wu2018 G

GPD2

13023.p1

chr2:
157762912-157762912

A

G

intergenic

De novo

-

Turner2016 G

GPD2

AU062204

chr2:
157598530-157598530

C

T

intergenic

De novo

-

Yuen2017 G

GPD2

13069.p1

chr2:
157789295-157789295

A

T

intergenic

De novo

-

Turner2016 G

GPD2

2-1381-003

chr2:
157490557-157490557

A

C

intergenic

De novo

-

Yuen2017 G

GPD2

1-0010-003

chr2:
157491993-157491993

A

G

intergenic

De novo

-

Yuen2017 G

GPD2

11002.p1

chr2:
157949015-157949015

T

A

intergenic

De novo

-

Turner2016 G

GPD2

AU3124302

chr2:
157489068-157489068

T

A

intergenic

De novo

-

Yuen2017 G

GPD2

AU2951302

chr2:
157611315-157611315

A

G

intergenic

De novo

-

Yuen2017 G

GPD2

AU2951303

chr2:
157611315-157611315

A

G

intergenic

De novo

-

Yuen2017 G

GPD2

1-0305-004

chr2:
157673137-157673137

A

G

intergenic

De novo

-

Yuen2017 G

GPD2

TRE_469

chr2:
157439410-157439410

C

T

exonic

De novo

nonsynonymous SNV

NM_000408
NM_001083112

c.C2164T
c.C2164T

p.R722C
p.R722C

22.4

-

Fu2022 E

GPD2

2-1114-003

chr2:
157807923-157807923

T

G

intergenic

De novo

-

Yuen2017 G

GPD2

AU3703302

chr2:
158112322-158112322

A

G

intergenic

De novo

-

Yuen2017 G

GPD2

AU4191302

chr2:
157728794-157728794

T

G

intergenic

De novo

-

Yuen2017 G

GPD2

AU3874302

chr2:
158037464-158037464

A

G

intergenic

De novo

-

Yuen2017 G

GPD2

1-0045-004

chr2:
157373815-157373815

G

GACAT

intronic

De novo

-

Yuen2017 G

GPD2

2-1239-003

chr2:
157690862-157690876

GCACACACACACACA

GCACACACACACA

intergenic

De novo

-

Yuen2017 G

GPD2

7-0255-003

chr2:
157957953-157957953

A

T

intergenic

De novo

-

Yuen2017 G

GPD2

2-1508-003

chr2:
157491993-157491993

A

G

intergenic

De novo

-

Yuen2017 G

GPD2

AU3398301

chr2:
157857069-157857069

A

G

intergenic

De novo

-

Yuen2017 G

GPD2

1-0567-004

chr2:
157904363-157904363

C

G

intergenic

De novo

-

Yuen2017 G

GPD2

AU027506

chr2:
158074709-158074709

A

G

intergenic

De novo

-

Yuen2017 G

GPD2

2-1461-003

chr2:
157888773-157888773

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GPD2

1-0965-003

chr2:
157369259-157369259

G

A

intronic

De novo

-

Yuen2017 G

GPD2

AU4433301

chr2:
157575484-157575484

T

C

intergenic

De novo

-

Yuen2017 G

GPD2

AU072004

chr2:
157793199-157793199

A

G

intergenic

De novo

-

Yuen2017 G

GPD2

2-1277-003

chr2:
157492051-157492051

C

G

intergenic

De novo

-

Yuen2017 G

GPD2

2-1425-004

chr2:
158027291-158027291

G

C

intergenic

De novo

-

Yuen2017 G

GPD2

7-0254-004

chr2:
157549843-157549843

T

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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