Variant Results

or

Results for "PTPRD"

Variant Events: 169

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

PTPRD

2-1153-003

chr9:
8674137-8674137

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRD

AU3915301

chr9:
8539813-8539813

C

G

intronic

De novo

-

Yuen2017 G

PTPRD

AU2140305

chr9:
9599272-9599272

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

PN400117

chr9:
8340408-8340408

G

A

exonic

Unknown

nonsynonymous SNV

NM_001171025
NM_130393
NM_001040712
NM_130391
NM_130392
NM_002839

c.C3967T
c.C3940T
c.C3958T
c.C3967T
c.C3970T
c.C5188T

p.R1323W
p.R1314W
p.R1320W
p.R1323W
p.R1324W
p.R1730W

18.52

1.655E-5

Leblond2019 E

PTPRD

1-0286-004

chr9:
8528014-8528014

C

G

intronic

De novo

-

Yuen2017 G

PTPRD

AU4219302

chr9:
9953669-9953669

T

G

intronic

De novo

-

Yuen2017 G

PTPRD

1-0092-004

chr9:
10367296-10367296

C

A

intronic

De novo

-

Yuen2017 G

PTPRD

7-0249-004

chr9:
8878167-8878167

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

AU073006

chr9:
9455897-9455897

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

7-0249-004

chr9:
9968934-9968934

C

G

intronic

De novo

-

Yuen2017 G

PTPRD

1-0139-003

chr9:
9499055-9499055

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

1-0290-003

chr9:
10081448-10081448

T

A

intronic

De novo

-

Yuen2017 G

PTPRD

63-449

chr9:
9674565-9674565

C

T

intronic

De novo

-

Michaelson2012 G

PTPRD

AU3638302

chr9:
9610162-9610162

G

C

intronic

De novo

-

Yuen2017 G

PTPRD

7-0044-003

chr9:
10381893-10381893

G

A

intronic

De novo

-

Yuen2017 G

PTPRD

AU3638302

chr9:
9612238-9612238

G

A

intronic

De novo

-

Yuen2017 G

PTPRD

AU3648301

chr9:
10272146-10272146

T

G

intronic

De novo

-

Yuen2017 G

PTPRD

A8

chr9:
9570672-9570672

C

A

intronic

De novo

-

Wu2018 G

PTPRD

74-0352

chr9:
9605254-9605254

A

G

intronic

De novo

-

Michaelson2012 G

PTPRD

1-0259-003

chr9:
8554572-8554572

C

A

intronic

De novo

-

Yuen2017 G

PTPRD

2-1511-003

chr9:
8374581-8374581

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

AU1698302

chr9:
8804098-8804098

G

T

intronic

De novo

-

Yuen2017 G

PTPRD

7-0151-003

chr9:
9542979-9542979

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

1-0627-007

chr9:
9621672-9621672

A

G

intronic

De novo

-

Yuen2017 G

PTPRD

7-0143-003

chr9:
8704287-8704287

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

2-1526-003

chr9:
8881154-8881154

C

G

intronic

De novo

-

Yuen2017 G

PTPRD

AU3765303

chr9:
10497991-10497991

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

7-0100-004

chr9:
9860124-9860124

A

G

intronic

De novo

-

Yuen2017 G

PTPRD

AU3053301

chr9:
8630212-8630212

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

1-0208-003

chr9:
9218234-9218234

C

A

intronic

De novo

-

Yuen2017 G

PTPRD

AU3053301

chr9:
8635529-8635529

G

A

intronic

De novo

-

Yuen2017 G

PTPRD

2-0129-004

chr9:
9623349-9623349

A

C

intronic

De novo

-

Yuen2017 G

PTPRD

2-1339-003

chr9:
9403506-9403506

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

2-1231-003

chr9:
9605370-9605370

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRD

2-1626-003

chr9:
9012215-9012215

C

G

intronic

De novo

-

Yuen2017 G

PTPRD

AU3912301

chr9:
9303999-9303999

A

G

intronic

De novo

-

Yuen2017 G

PTPRD

2-1250-003

chr9:
10479292-10479292

T

G

intronic

De novo

-

Yuen2017 G

PTPRD

12585.p1

chr9:
8872868-8872868

A

G

intronic

De novo

-

Wilfert2021 G

PTPRD

AU026604

chr9:
9502466-9502466

A

G

intronic

De novo

-

Yuen2017 G

PTPRD

1-0563-004

chr9:
9970418-9970418

A

AGAGCCTGGCTCAAAAAAAAAAAAGAAAAAGAAGCCT

intronic

De novo

-

Yuen2017 G

PTPRD

2-1417-003

chr9:
10317980-10317980

G

A

intronic

De novo

-

Yuen2017 G

PTPRD

3C548

chr9:
8484409-8484409

C

A

intronic

De novo

-

Satterstrom2020 E

PTPRD

1-0965-003

chr9:
8459003-8459005

CTT

C

intronic

De novo

-

Yuen2017 G

PTPRD

2-1417-003

chr9:
8602388-8602388

A

G

intronic

De novo

-

Yuen2017 G

PTPRD

AU002903

chr9:
10232590-10232590

G

C

intronic

De novo

-

Yuen2017 G

PTPRD

1-0571-003

chr9:
10458205-10458205

A

T

intronic

De novo

-

Yuen2017 G

PTPRD

2-1317-003

chr9:
8759306-8759306

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

AU4186302

chr9:
8739370-8739370

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

AU026604

chr9:
9492435-9492435

G

A

intronic

De novo

-

Yuen2017 G

PTPRD

AU026604

chr9:
9502148-9502148

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

AU3903302

chr9:
8855624-8855624

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

AU1909304

chr9:
9832881-9832888

CTTTTTTT

CTTTTTT

intronic

De novo

-

Yuen2017 G

PTPRD

2-1370-003

chr9:
8866502-8866502

A

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRD

AU017304

chr9:
9212442-9212442

A

C

intronic

De novo

-

Yuen2017 G

PTPRD

1-0479-006

chr9:
8525437-8525437

G

C

intronic

De novo

-

Yuen2017 G

PTPRD

2-0022-005

chr9:
8783756-8783756

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

1-0299-004

chr9:
9847291-9847291

A

G

intronic

De novo

-

Yuen2017 G

PTPRD

AU2495302

chr9:
10040297-10040297

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

1-0479-006

chr9:
9834683-9834683

A

G

intronic

De novo

-

Yuen2017 G

PTPRD

SP0078839

chr9:
8319986-8319986

G

C

intronic

De novo

-

Fu2022 E

PTPRD

1-0004-003

chr9:
10163173-10163173

T

TAAAAAAAAAAAAAATAAAAAAATAAAAAA

intronic

De novo

-

Yuen2017 G

PTPRD

1-0479-006

chr9:
8528228-8528228

C

A

intronic

De novo

-

Yuen2017 G

PTPRD

2-0116-004

chr9:
8845625-8845630

AAGATT

A

intronic

De novo

-

Yuen2017 G

PTPRD

13300.p1

chr9:
8318911-8318915

CAGAT

C

intronic

De novo

-

Werling2018 G

PTPRD

AU031203

chr9:
8406516-8406516

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

2-1436-003

chr9:
9491845-9491845

A

C

intronic

De novo

-

Yuen2017 G

PTPRD

2-1325-003

chr9:
10382102-10382102

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRD

AU3861303

chr9:
8790529-8790540

TGCCTCAGCCTC

TGCCTC

intronic

De novo

-

Yuen2017 G

PTPRD

AU4269301

chr9:
8923442-8923442

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

SP0033833

chr9:
8331831-8331831

G

A

intronic

De novo

-

Fu2022 E

PTPRD

AU4060306

chr9:
9498695-9498695

C

G

intronic

De novo

-

Yuen2017 G

PTPRD

AU0146302

chr9:
9948394-9948394

G

A

intronic

De novo

-

Yuen2017 G

PTPRD

MT_69

chr9:
8484233-8484233

G

A

exonic

Paternal

nonsynonymous SNV

NM_001171025
NM_001040712
NM_130393
NM_130391
NM_130392
NM_002839

c.C2036T
c.C2057T
c.C2051T
c.C2066T
c.C2066T
c.C3299T

p.T679M
p.T686M
p.T684M
p.T689M
p.T689M
p.T1100M

18.26

8.237E-6

Toma2013 E

PTPRD

2-1738-003

chr9:
9980634-9980635

AC

A

intronic

De novo

-

Yuen2017 G

PTPRD

AU072005

chr9:
8990948-8990948

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

AU072005

chr9:
9467665-9467665

G

A

intronic

De novo

-

Yuen2017 G

PTPRD

AU3768302

chr9:
10499871-10499871

G

C

intronic

De novo

-

Yuen2017 G

PTPRD

AU3122301

chr9:
9309536-9309536

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

AU071703

chr9:
8716308-8716308

T

G

intronic

De novo

-

Yuen2017 G

PTPRD

AU3761301

chr9:
10441347-10441347

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

AU072505

chr9:
9495398-9495398

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

AU056204

chr9:
9390422-9390422

C

G

intronic

De novo

-

Yuen2017 G

PTPRD

AU4343302

chr9:
8835636-8835636

C

G

intronic

De novo

-

Yuen2017 G

PTPRD

2-1194-003

chr9:
8921974-8921974

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRD

SP0048752

chr9:
8331627-8331627

G

GT

exonic

De novo

frameshift insertion

NM_001171025
NM_130393
NM_001040712
NM_130391
NM_130392
NM_002839

c.4267dupA
c.4240dupA
c.4258dupA
c.4267dupA
c.4270dupA
c.5488dupA

p.T1423fs
p.T1414fs
p.T1420fs
p.T1423fs
p.T1424fs
p.T1830fs

-

Antaki2022 GE
Fu2022 E

PTPRD

AU3888302

chr9:
9465777-9465777

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

7-0127-003

chr9:
10435881-10435881

G

T

intronic

De novo

-

Yuen2017 G

PTPRD

AU3888302

chr9:
9471471-9471471

A

C

intronic

De novo

-

Yuen2017 G

PTPRD

7-0127-003

chr9:
10484207-10484207

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

AU3721302

chr9:
9139095-9139095

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

7-0250-003

chr9:
10114589-10114589

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

1-0344-003

chr9:
8344960-8344960

T

TAACATTCAGTCTCCCCTAAAACTTAGAGTATAATAAAAAAAAAAA

intronic

De novo

-

Yuen2017 G

PTPRD

AU4056301

chr9:
10293812-10293812

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

AU3794302

chr9:
8322344-8322344

A

T

intronic

De novo

-

Yuen2017 G

PTPRD

1-0629-003

chr9:
10393304-10393304

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

1-0296-004

chr9:
8460434-8460434

G

A

exonic

De novo

synonymous SNV

NM_001171025
NM_001040712
NM_130393
NM_130391
NM_130392
NM_002839

c.C2589T
c.C2610T
c.C2604T
c.C2619T
c.C2619T
c.C3852T

p.V863V
p.V870V
p.V868V
p.V873V
p.V873V
p.V1284V

-

Yuen2017 G

PTPRD

AU043804

chr9:
8586053-8586053

G

GC

intronic

De novo

-

Yuen2017 G

PTPRD

AU3859301

chr9:
9455276-9455276

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

1-0489-003

chr9:
9239346-9239346

A

G

intronic

De novo

-

Yuen2017 G

PTPRD

2-1272-003

chr9:
8545327-8545327

A

G

intronic

De novo

-

Yuen2016 G

PTPRD

AU4027306

chr9:
8756856-8756856

C

A

intronic

De novo

-

Yuen2017 G

PTPRD

1-0898-003

chr9:
8714758-8714758

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

1-0898-003

chr9:
8484797-8484800

ATTT

ATT

intronic

De novo

-

Yuen2017 G

PTPRD

5-0099-003

chr9:
9379343-9379343

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

1-0190-003

chr9:
9058903-9058903

G

T

intronic

De novo

-

Yuen2017 G

PTPRD

AU1764301

chr9:
9028829-9028829

G

A

intronic

De novo

-

Yuen2017 G

PTPRD

AU3702306

chr9:
8348235-8348235

A

G

intronic

De novo

-

Yuen2017 G

PTPRD

2-1137-003

chr9:
9446882-9446882

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRD

2-1709-003

chr9:
9832425-9832425

T

G

intronic

De novo

-

Yuen2017 G

PTPRD

AU4310301

chr9:
10610839-10610839

C

A

intronic

De novo

-

Yuen2017 G

PTPRD

1-0995-003

chr9:
9183610-9183610

C

A

intronic

De novo

-

Yuen2017 G

PTPRD

1-0210-004

chr9:
8749235-8749235

G

A

intronic

De novo

-

Yuen2017 G

PTPRD

2-0145-004

chr9:
9248384-9248384

G

A

intronic

De novo

-

Yuen2017 G

PTPRD

5-0133-003

chr9:
10424969-10424969

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

2-1278-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

PTPRD

7-0035-003

chr9:
9205915-9205915

G

C

intronic

De novo

-

Yuen2017 G

PTPRD

2-1736-003

chr9:
10423357-10423357

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

7-0179-003

chr9:
10247937-10247937

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

AU3777301

chr9:
9824967-9824967

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

1-0112-004

chr9:
9747543-9747543

T

TG

intronic

De novo

-

Yuen2017 G

PTPRD

2-1266-003

chr9:
9187603-9187618

CCTCTCTCTCTCTCTC

CCTCTCTCTCTCTC

intronic

De novo

-

Yuen2017 G

PTPRD

2-1338-003

chr9:
10490343-10490343

C

A

intronic

De novo

-

Yuen2017 G

PTPRD

AU3761302

chr9:
8854614-8854614

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

1-0656-003

chr9:
9925433-9925433

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

13951.p1

chr9:
8485615-8485615

C

T

intronic

De novo

-

Turner2016 G

PTPRD

11341.p1

chr9:
10411636-10411636

A

G

intronic

De novo

-

Turner2016 G

PTPRD

2-1132-003

chr9:
10289928-10289928

G

C

intronic

De novo

-

Yuen2017 G

PTPRD

AU4093301

chr9:
8729108-8729108

A

G

intronic

De novo

-

Yuen2017 G

PTPRD

2-1132-003

chr9:
10237425-10237425

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

A20

chr9:
9805480-9805480

T

A

intronic

De novo

-

Wu2018 G

PTPRD

2-1132-003

chr9:
10236526-10236526

C

G

intronic

De novo

-

Yuen2017 G

PTPRD

AU072904

chr9:
9892739-9892739

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

2-0307-004

chr9:
8400811-8400815

TACTC

T

intronic

De novo

-

Yuen2017 G

PTPRD

AU3839303

chr9:
9034279-9034279

G

T

intronic

De novo

-

Yuen2017 G

PTPRD

1-0073-003

chr9:
9272888-9272888

A

G

intronic

De novo

-

Yuen2017 G

PTPRD

2-1383-003

chr9:
10466027-10466027

G

A

intronic

De novo

-

Yuen2017 G

PTPRD

AU3635301

chr9:
9132030-9132030

C

G

intronic

De novo

-

Yuen2017 G

PTPRD

2-1107-003

chr9:
8503672-8503672

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRD

5-0061-003

chr9:
10136685-10136685

A

C

intronic

De novo

-

Yuen2017 G

PTPRD

1-0973-003

chr9:
9158652-9158652

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

1-0973-003

chr9:
9151932-9151932

C

G

intronic

De novo

-

Yuen2017 G

PTPRD

AU079605

chr9:
8441608-8441608

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

AU050910

chr9:
9549648-9549648

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

2-1451-004

chr9:
8592068-8592068

A

G

intronic

De novo

-

Yuen2017 G

PTPRD

AU2427301

chr9:
9703148-9703148

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

2-1451-004

chr9:
8575934-8575934

C

G

intronic

De novo

-

Yuen2017 G

PTPRD

AU3057302

chr9:
9834546-9834546

T

A

intronic

De novo

-

Yuen2017 G

PTPRD

2-1254-003

chr9:
10165595-10165595

T

C

intronic

De novo

-

Yuen2016 G

PTPRD

2-1317-003

chr9:
8752926-8752926

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRD

2-1317-003

chr9:
8773288-8773288

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRD

G01-GEA-304-HI

chr9:
8317976-8317976

A

T

intronic

De novo

-

Satterstrom2020 E

PTPRD

1-0054-003

chr9:
10554846-10554846

G

C

intronic

De novo

-

Yuen2017 G

PTPRD

2-1317-003

chr9:
9018770-9018770

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRD

1-0054-003

chr9:
10550113-10550113

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

2-1317-003

chr9:
9019952-9019952

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRD

2-1317-003

chr9:
8781286-8781286

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRD

2-1317-003

chr9:
9005185-9005185

G

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRD

2-1369-003

chr9:
10164412-10164412

A

G

intronic

De novo

-

Yuen2016 G

PTPRD

1-0054-003

chr9:
10556263-10556263

G

C

intronic

De novo

-

Yuen2017 G

PTPRD

2-1444-003

chr9:
8632005-8632005

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRD

1-0841-003

chr9:
9424533-9424533

A

G

intronic

De novo

-

Yuen2017 G

PTPRD

A32

chr9:
9884091-9884091

G

A

intronic

De novo

-

Wu2018 G

PTPRD

2-1350-003

chr9:
9992199-9992199

A

AACC

intronic

De novo

-

Yuen2017 G

PTPRD

1-0459-004

chr9:
8757996-8757996

T

C

intronic

De novo

-

Yuen2017 G

PTPRD

7-0024-005

chr9:
9142530-9142531

TG

T

intronic

De novo

-

Yuen2017 G

PTPRD

AU061104

chr9:
9196024-9196024

C

T

intronic

De novo

-

Yuen2017 G

PTPRD

AU072504

chr9:
8766689-8766694

CCACTA

C

intronic

De novo

-

Yuen2017 G

PTPRD

AU3951302

chr9:
10595522-10595522

G

C

intronic

De novo

-

Yuen2017 G

PTPRD

AU3951302

chr9:
10598195-10598195

A

C

intronic

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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