Variant Results

or

Results for "PLD5"

Variant Events: 88

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

PLD5

7-0167-003

chr1:
243213386-243213386

C

A

intergenic

De novo

-

Yuen2017 G

PLD5

AU075207

chr1:
243035013-243035013

A

G

intergenic

De novo

-

Yuen2017 G

PLD5

1-0079-003

chr1:
242720759-242720760

GA

G

intergenic

De novo

-

Yuen2017 G

PLD5

2-0158-003

chr1:
243201766-243201766

A

C

intergenic

De novo

-

Yuen2017 G

PLD5

2-1107-003

chr1:
243057355-243057355

G

A

intergenic

De novo

-

Yuen2017 G

PLD5

1-0041-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

PLD5

AU012804

chr1:
242344825-242344825

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLD5

AU2123302

chr1:
242483838-242483838

G

T

intronic

De novo

-

Yuen2017 G

PLD5

1-0385-003

chr1:
242903304-242903304

G

C

intergenic

De novo

-

Yuen2017 G

PLD5

1-0458-003

chr1:
243027448-243027448

G

A

intergenic

De novo

-

Yuen2017 G

PLD5

A16

chr1:
242443000-242443000

T

C

intronic

De novo

-

Wu2018 G

PLD5

SP0126626

chr1:
242612819-242612819

C

A

intronic

De novo

-

Fu2022 E
Trost2022 G

PLD5

2-1089-003

chr1:
242623464-242623464

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLD5

2-1268-003

chr1:
242909096-242909096

A

C

intergenic

De novo

-

Yuen2017 G

PLD5

AU4149301

chr1:
243048293-243048293

G

A

intergenic

De novo

-

Yuen2017 G

PLD5

1-0244-003

chr1:
242312010-242312010

A

T

intronic

De novo

-

Yuen2016 G

PLD5

AU2089302

chr1:
243077307-243077307

G

A

intergenic

De novo

-

Yuen2017 G

PLD5

13069.p1

chr1:
242637339-242637339

G

A

intronic

De novo

-

Turner2016 G
Werling2018 G

PLD5

2-1689-003

chr1:
242271662-242271662

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLD5

12055.p1

chr1:
242383342-242383342

T

C

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001195812
NM_001195811
NM_152666

c.A59G
c.A497G
c.A683G

p.K20R
p.K166R
p.K228R

11.14

-

Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

PLD5

AU4093304

chr1:
242571430-242571430

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLD5

2-1254-003

chr1:
242644247-242644247

G

A

intronic

De novo

-

Yuen2016 G

PLD5

AU2129303

chr1:
243058068-243058068

T

C

intergenic

De novo

-

Yuen2017 G

PLD5

SSC07586

chr1:
242383342-242383342

T

C

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001195812
NM_001195811
NM_152666

c.A59G
c.A497G
c.A683G

p.K20R
p.K166R
p.K228R

11.14

-

Lim2017 E
Trost2022 G

PLD5

5-5165-003

chr1:
242326248-242326248

C

G

intronic

De novo

-

Trost2022 G

PLD5

AU2129303

chr1:
243169221-243169221

T

C

intergenic

De novo

-

Yuen2017 G

PLD5

1-0683-003

chr1:
242311557-242311561

TTGTT

AAAAAAA

intronic

De novo

-

Trost2022 G

PLD5

2-0307-004

chr1:
242571284-242571284

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLD5

AU2463301

chr1:
242329541-242329541

C

T

intronic

De novo

-

Trost2022 G

PLD5

2-1375-003

chr1:
243028486-243028486

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PLD5

5-5165-003

chr1:
242326865-242326865

A

G

intronic

De novo

-

Trost2022 G

PLD5

AU4060306

chr1:
243034911-243034911

T

C

intergenic

De novo

-

Yuen2017 G

PLD5

1-0446-003

chr1:
242893668-242893668

C

T

intergenic

De novo

-

Yuen2017 G

PLD5

1-0133-003

chr1:
242308891-242308894

TAAG

T

intronic

De novo

-

Trost2022 G

PLD5

SP0157478

chr1:
242253367-242253367

G

A

exonic

De novo

nonsynonymous SNV

NM_001195812
NM_001195811
NM_152666

c.C776T
c.C1214T
c.C1400T

p.T259M
p.T405M
p.T467M

10.99

-

Trost2022 G

PLD5

1008

chr1:
242424056-242424056

C

G

intronic

De novo

-

Trost2022 G

PLD5

1-0985-003

chr1:
242937417-242937417

G

A

intergenic

De novo

-

Yuen2017 G

PLD5

1-1105-003

chr1:
242422595-242422595

A

G

intronic

De novo

-

Trost2022 G

PLD5

7-0250-003

chr1:
242853368-242853373

CTGTGT

CTGT

intergenic

De novo

-

Yuen2017 G

PLD5

7-0379-003

chr1:
242468186-242468186

G

A

intronic

De novo

-

Trost2022 G

PLD5

SP0224049

chr1:
242451818-242451818

T

C

exonic

De novo

nonsynonymous SNV

NM_001195811
NM_152666

c.A155G
c.A341G

p.E52G
p.E114G

18.15

-

Trost2022 G

PLD5

AU056804

chr1:
242386431-242386431

A

T

intronic

De novo

-

Yuen2017 G

PLD5

AU1940304

chr1:
242335887-242335887

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLD5

REACH000159

chr1:
242371333-242371333

T

C

intronic

De novo

-

Trost2022 G

PLD5

MSSNG00038-004

chr1:
242354095-242354095

T

A

intronic

De novo

-

Trost2022 G

PLD5

5-0024-003

chr1:
242404368-242404368

G

C

intronic

De novo

-

Trost2022 G

PLD5

1-0531-003

chr1:
242494202-242494202

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PLD5

5-0146-003

chr1:
242925197-242925197

T

C

intergenic

De novo

-

Yuen2017 G

PLD5

1-1116-003

chr1:
242378077-242378081

AAACT

A

intronic

De novo

-

Trost2022 G

PLD5

1-0582-003

chr1:
243049735-243049735

G

C

intergenic

De novo

-

Yuen2017 G

PLD5

4-0062-003

chr1:
242660233-242660236

GAGG

ATGT

intronic

De novo

-

Trost2022 G

PLD5

4-0062-003

chr1:
242660228-242660228

A

C

intronic

De novo

-

Trost2022 G

PLD5

2-0139-003

chr1:
242673056-242673056

T

C

intronic

De novo

-

Trost2022 G

PLD5

4-0014-003

chr1:
242661034-242661034

A

T

intronic

De novo

-

Trost2022 G

PLD5

7-0322-003

chr1:
242563777-242563777

T

C

intronic

De novo

-

Trost2022 G

PLD5

AU2310301

chr1:
242563084-242563084

C

T

intronic

De novo

-

Trost2022 G

PLD5

MT_167.3

chr1:
242635551-242635551

G

A

intronic

De novo

-

Trost2022 G

PLD5

4-0062-003

chr1:
242575990-242575991

AT

CC

intronic

De novo

-

Trost2022 G

PLD5

AU3874302

chr1:
242507566-242507566

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLD5

2-1422-003

chr1:
242730369-242730369

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PLD5

2-1688-003

chr1:
242684857-242684857

T

C

intronic

De novo

-

Trost2022 G

PLD5

3-0847-000

chr1:
242678027-242678027

T

A

intronic

De novo

-

Trost2022 G

PLD5

2-0244-003

chr1:
242664165-242664165

A

T

intronic

De novo

-

Yuen2017 G

PLD5

2-1357-003

chr1:
242346021-242346021

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLD5

3-0216-000

chr1:
243192158-243192161

CAGA

CA

intergenic

De novo

-

Yuen2017 G

PLD5

1-0513-003

chr1:
242455655-242455655

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PLD5

1-0629-003

chr1:
242766384-242766384

A

G

intergenic

De novo

-

Yuen2017 G

PLD5

AU4234302

chr1:
242653217-242653218

GA

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLD5

AU3716301

chr1:
242987505-242987512

GAAAAAAA

GAAAAAA

intergenic

De novo

-

Yuen2017 G

PLD5

1-0835-003

chr1:
243147499-243147499

A

T

intergenic

De novo

-

Yuen2017 G

PLD5

1-0835-003

chr1:
242491852-242491852

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLD5

1-0708-003

chr1:
242593356-242593356

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLD5

AU003406

chr1:
242433692-242433692

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLD5

1-0300-004

chr1:
242373442-242373442

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLD5

AU051504

chr1:
242860051-242860051

C

T

intergenic

De novo

-

Yuen2017 G

PLD5

2-0219-004

chr1:
242683594-242683594

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLD5

1-0493-003

chr1:
243122723-243122723

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PLD5

7-0143-003

chr1:
242698120-242698120

C

T

intergenic

De novo

-

Yuen2017 G

PLD5

2-1627-003

chr1:
242581124-242581124

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLD5

AU4013302

chr1:
242870234-242870234

C

T

intergenic

De novo

-

Yuen2017 G

PLD5

1-0668-003

chr1:
242762904-242762904

C

T

intergenic

De novo

-

Yuen2017 G

PLD5

1-0914-003

chr1:
242983587-242983587

C

T

intergenic

De novo

-

Yuen2017 G

PLD5

AU0540301

chr1:
243213337-243213337

G

A

intergenic

De novo

-

Yuen2017 G

PLD5

2-1272-003

chr1:
242904809-242904809

C

T

intergenic

De novo

-

Yuen2016 G

PLD5

2-0242-005

chr1:
242322426-242322426

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PLD5

2-0310-004

chr1:
243038608-243038608

G

A

intergenic

De novo

-

Yuen2017 G

PLD5

2-1429-004

chr1:
242808990-242808990

T

C

intergenic

De novo

-

Yuen2017 G

PLD5

AU3905301

chr1:
243161883-243161883

T

C

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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