Variant Results

or

Results for "PTPRK"

Variant Events: 43

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

PTPRK

AU036203

chr6:
128412215-128412215

C

A

intronic

De novo

-

Yuen2017 G

PTPRK

2-0285-004

chr6:
128503275-128503281

ATAAACT

A

intronic

De novo

-

Yuen2017 G

PTPRK

AU051504

chr6:
128839605-128839605

G

A

intronic

De novo

-

Yuen2017 G

PTPRK

2-1322-003

chr6:
128517156-128517156

C

A

intronic

De novo

-

Yuen2017 G

PTPRK

10C107875

chr6:
128297758-128297758

C

A

intronic

De novo

-

Kosmicki2017 E

PTPRK

1-0032-003

chr6:
128455510-128455510

G

A

intronic

De novo

-

Yuen2017 G

PTPRK

AU2975301

chr6:
129043373-129043384

TTATATATATAT

TTATATATATATAT

intergenic

De novo

-

Yuen2017 G

PTPRK

2-1591-003

chr6:
128630706-128630706

C

G

intronic

De novo

-

Yuen2017 G

PTPRK

A27

chr6:
128860739-128860739

T

C

intergenic

De novo

-

Wu2018 G

PTPRK

2-1425-004

chr6:
128976558-128976558

A

ATTT

intergenic

De novo

-

Yuen2017 G

PTPRK

AU3586303

chr6:
128478255-128478260

ATAGTA

ATA

intronic

De novo

-

Yuen2017 G

PTPRK

AU2139305

chr6:
128835739-128835739

A

G

intronic

De novo

-

Yuen2017 G

PTPRK

2-1254-003

chr6:
128751837-128751837

C

T

intronic

De novo

-

Yuen2016 G

PTPRK

13629.p1

chr6:
128326372-128326372

C

T

exonic

De novo

nonsynonymous SNV

NM_001135648
NM_001291981
NM_001291984
NM_002844
NM_001291982
NM_001291983

c.G2351A
c.G2351A
c.G2348A
c.G2351A
c.G2381A
c.G2036A

p.R784H
p.R784H
p.R783H
p.R784H
p.R794H
p.R679H

24.3

2.502E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Wilfert2021 G

PTPRK

1-0006-003

chr6:
128726698-128726698

C

T

intronic

De novo

-

Yuen2017 G

PTPRK

AU3713301

chr6:
129162549-129162549

A

T

intergenic

De novo

-

Yuen2017 G

PTPRK

AU075207

chr6:
128850477-128850477

C

A

intergenic

De novo

-

Yuen2017 G

PTPRK

1-0079-003

chr6:
128915859-128915859

C

G

intergenic

De novo

-

Yuen2017 G

PTPRK

1-0305-004

chr6:
128696884-128696884

A

G

intronic

De novo

-

Yuen2017 G

PTPRK

5-0050-004

chr6:
128671888-128671888

A

T

intronic

De novo

-

Yuen2017 G

PTPRK

1-0300-003

chr6:
129142982-129142982

A

G

intergenic

De novo

-

Yuen2017 G

PTPRK

1-0972-003

chr6:
128317827-128317827

G

A

intronic

De novo

-

Yuen2017 G

PTPRK

2-1306-004

chr6:
129150871-129150871

C

A

intergenic

De novo

-

Yuen2017 G

PTPRK

A28

chr6:
129044115-129044115

A

G

intergenic

De novo

-

Wu2018 G

PTPRK

1-0715-003

chr6:
128489306-128489306

G

A

intronic

De novo

-

Yuen2017 G

PTPRK

AU2019302

chr6:
129081654-129081654

C

T

intergenic

De novo

-

Yuen2017 G

PTPRK

AU3881301

chr6:
129143734-129143734

G

C

intergenic

De novo

-

Yuen2017 G

PTPRK

2-0122-004

chr6:
128765085-128765085

C

T

intronic

De novo

-

Yuen2017 G

PTPRK

2-1066-004

chr6:
128493256-128493256

G

A

intronic

De novo

-

Yuen2017 G

PTPRK

AU0636303

chr6:
128726359-128726359

C

A

intronic

De novo

-

Yuen2017 G

PTPRK

2-1605-004

chr6:
129128428-129128428

T

C

intergenic

De novo

-

Yuen2017 G

PTPRK

7-0254-003

chr6:
128828388-128828394

CAAAAAA

CAAAAAAA

intronic

De novo

-

Yuen2017 G

PTPRK

AU3951302

chr6:
128523997-128523997

G

A

intronic

De novo

-

Yuen2017 G

PTPRK

AU061104

chr6:
128907519-128907523

ACCCC

ACCC

intergenic

De novo

-

Yuen2017 G

PTPRK

2-0303-004

chr6:
129090672-129090672

C

T

intergenic

De novo

-

Yuen2017 G

PTPRK

2-1633-003

chr6:
129102401-129102401

G

A

intergenic

De novo

-

Yuen2017 G

PTPRK

2-1112-003

chr6:
128550170-128550170

C

A

intronic

De novo

-

Yuen2017 G

PTPRK

2-1268-003

chr6:
128845121-128845121

T

C

intergenic

De novo

-

Yuen2017 G

PTPRK

5-0111-003

chr6:
128661638-128661639

AG

A

intronic

De novo

-

Yuen2017 G

PTPRK

2-1455-003

chr6:
128832674-128832674

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRK

63-343

chr6:
128296459-128296459

G

A

intronic

De novo

-

Michaelson2012 G

PTPRK

2-1306-003

chr6:
129150871-129150871

C

A

intergenic

De novo

-

Yuen2017 G

PTPRK

5-0114-003

chr6:
128334143-128334143

C

T

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
	More