Variant Results

or

Results for "PTPRT"

Variant Events: 93

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

PTPRT

2-1442-003

chr20:
41657372-41657372

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRT

AU4032306

chr20:
41688427-41688429

TGG

TG

intronic

De novo

-

Yuen2017 G

PTPRT

AU3779301

chr20:
40905567-40905567

T

C

intronic

De novo

-

Yuen2017 G

PTPRT

5-0110-003

chr20:
41669636-41669636

G

A

intronic

De novo

-

Yuen2017 G

PTPRT

AU000704

chr20:
41504816-41504816

T

G

intronic

De novo

-

Yuen2017 G

PTPRT

1-0534-004

chr20:
41512281-41512281

G

GCACACACACCCATA

intronic

De novo

-

Yuen2017 G

PTPRT

2-0149-004

chr20:
41512278-41512278

T

TACACACACACCCATACAC

intronic

De novo

-

Yuen2017 G

PTPRT

2-0286-003

chr20:
41512610-41512610

C

CCCCTATACACTCCCAT

intronic

De novo

-

Yuen2017 G

PTPRT

2-1220-003

chr20:
41385165-41385165

G

A

exonic

De novo

nonsynonymous SNV

NM_007050
NM_133170

c.C796T
c.C796T

p.R266C
p.R266C

34.0

8.472E-6

Yuen2016 G
Yuen2017 G

PTPRT

2-1235-004

chr20:
41503544-41503544

T

C

intronic

De novo

-

Yuen2017 G

PTPRT

7-0059-003

chr20:
41092073-41092073

T

A

intronic

De novo

-

Yuen2017 G

PTPRT

AU2495301

chr20:
41226267-41226267

G

A

intronic

De novo

-

Yuen2017 G

PTPRT

AU079605

chr20:
41525088-41525088

C

T

intronic

De novo

-

Yuen2017 G

PTPRT

AU2089301

chr20:
41148389-41148389

T

C

intronic

De novo

-

Yuen2017 G

PTPRT

2-1562-004

chr20:
41512263-41512263

A

ACC

intronic

De novo

-

Yuen2017 G

PTPRT

AU057503

chr20:
41622729-41622729

C

T

intronic

De novo

-

Yuen2017 G

PTPRT

1-0324-003

chr20:
41858069-41858069

C

T

intergenic

De novo

-

Yuen2017 G

PTPRT

1-0826-004

chr20:
41512610-41512610

C

CCCCTAT

intronic

De novo

-

Yuen2017 G

PTPRT

1-0972-003

chr20:
41919856-41919856

C

T

intergenic

De novo

-

Yuen2017 G

PTPRT

AU3703302

chr20:
41415675-41415675

A

G

intronic

De novo

-

Yuen2017 G

PTPRT

08C75650

chr20:
41385165-41385165

G

A

exonic

De novo

nonsynonymous SNV

NM_007050
NM_133170

c.C796T
c.C796T

p.R266C
p.R266C

34.0

8.472E-6

Satterstrom2020 E

PTPRT

PN400289

chr20:
40733279-40733279

C

T

exonic

Unknown

nonsynonymous SNV

NM_007050
NM_133170

c.G3470A
c.G3527A

p.R1157H
p.R1176H

33.0

1.0E-4

Leblond2019 E

PTPRT

3-0246-000

chr20:
41338836-41338836

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRT

2-0149-003

chr20:
41103522-41103522

C

A

intronic

De novo

-

Yuen2017 G

PTPRT

2-1265-003

chr20:
41869894-41869894

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRT

1-0009-004

chr20:
41736000-41736000

A

C

intronic

De novo

-

Yuen2017 G

PTPRT

AU061104

chr20:
41842616-41842616

T

G

intergenic

De novo

-

Yuen2017 G

PTPRT

1-0141-003

chr20:
41260941-41260941

C

T

intronic

De novo

-

Yuen2017 G

PTPRT

1-0269-003

chr20:
40840663-40840663

C

CCAATTTCAAATTGGAA

intronic

De novo

-

Yuen2017 G

PTPRT

2-0307-003

chr20:
41512612-41512612

C

CAT

intronic

De novo

-

Yuen2017 G

PTPRT

AU3648301

chr20:
42073656-42073656

G

A

intergenic

De novo

-

Yuen2017 G

PTPRT

2-1635-004

chr20:
40842720-40842720

A

G

intronic

De novo

-

Yuen2017 G

PTPRT

AU3617302

chr20:
40998962-40998962

T

C

intronic

De novo

-

Yuen2017 G

PTPRT

AU1725306

chr20:
41224819-41224819

C

T

intronic

De novo

-

Yuen2017 G

PTPRT

1-0175-003

chr20:
41512283-41512283

A

ACACC

intronic

De novo

-

Yuen2017 G

PTPRT

7-0151-003

chr20:
41060950-41060950

A

T

intronic

De novo

-

Yuen2017 G

PTPRT

2-1277-004

chr20:
41428430-41428430

G

A

intronic

De novo

-

Yuen2017 G

PTPRT

AU3076302

chr20:
40834264-40834264

C

A

intronic

De novo

-

Yuen2017 G

PTPRT

3-0437-000

chr20:
41945818-41945818

T

G

intergenic

De novo

-

Yuen2016 G

PTPRT

2-1437-003

chr20:
41696822-41696822

A

AAGGGAAGAAG

intronic

De novo

-

Yuen2017 G

PTPRT

1-0651-003

chr20:
42044895-42044895

C

G

intergenic

De novo

-

Yuen2017 G

PTPRT

5-0017-004

chr20:
41512263-41512263

A

ACTCATATGCT

intronic

De novo

-

Yuen2017 G

PTPRT

AU3997301

chr20:
41710846-41710846

T

C

intronic

De novo

-

Yuen2017 G

PTPRT

1-0651-003

chr20:
41760603-41760603

A

C

intronic

De novo

-

Yuen2017 G

PTPRT

7-0254-004

chr20:
41445907-41445907

G

A

intronic

De novo

-

Yuen2017 G

PTPRT

AU3874301

chr20:
41427052-41427052

G

C

intronic

De novo

-

Yuen2017 G

PTPRT

AU3885304

chr20:
40918192-40918192

G

A

intronic

De novo

-

Yuen2017 G

PTPRT

AU075207

chr20:
41720499-41720499

G

A

intronic

De novo

-

Yuen2017 G

PTPRT

AU4197301

chr20:
40727818-40727841

TCATTCATCCATTCATCCATTCAT

TCATTCATCCATTCAT

intronic

De novo

-

Yuen2017 G

PTPRT

1-0045-003

chr20:
41487348-41487348

T

TGCTAAGAAATTTATGA

intronic

De novo

-

Yuen2017 G

PTPRT

2-1485-004

chr20:
40811904-40811904

T

A

intronic

De novo

-

Yuen2017 G

PTPRT

1-0914-003

chr20:
41086681-41086681

G

A

intronic

De novo

-

Yuen2017 G

PTPRT

1-0045-003

chr20:
41512252-41512252

A

AATACACACCCACACCCCCATACACATGCACACACACTCCC

intronic

De novo

-

Yuen2017 G

PTPRT

AU3702306

chr20:
40946082-40946082

A

C

intronic

De novo

-

Yuen2017 G

PTPRT

2-1619-003

chr20:
41512610-41512610

C

CCCCTAT

intronic

De novo

-

Yuen2017 G

PTPRT

AU3713302

chr20:
41084031-41084031

T

C

intronic

De novo

-

Yuen2017 G

PTPRT

AU2123302

chr20:
41282739-41282739

G

T

intronic

De novo

-

Yuen2017 G

PTPRT

2-1518-003

chr20:
41834010-41834010

T

G

intergenic

De novo

-

Yuen2017 G

PTPRT

7-0179-003

chr20:
41527697-41527697

G

A

intronic

De novo

-

Yuen2017 G

PTPRT

AU4473301

chr20:
41372120-41372120

G

A

intronic

De novo

-

Yuen2017 G

PTPRT

05HI3916A

chr20:
41101200-41101200

G

T

exonic

De novo

nonsynonymous SNV

NM_007050
NM_133170

c.C1156A
c.C1156A

p.P386T
p.P386T

23.8

-

Satterstrom2020 E

PTPRT

2-0003-004

chr20:
41512263-41512263

A

ACACACTCATATGCT

intronic

De novo

-

Yuen2017 G

PTPRT

2-1364-003

chr20:
41968035-41968035

C

T

intergenic

De novo

-

Yuen2017 G

PTPRT

13942.p1

chr20:
41067667-41067667

T

C

intronic

De novo

-

Turner2016 G

PTPRT

14370.p1

chr20:
41420515-41420515

C

T

intronic

De novo

-

Turner2016 G

PTPRT

2-1266-003

chr20:
42082225-42082225

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRT

12011.p1

chr20:
41420813-41420813

C

T

intronic

De novo

-

Turner2016 G

PTPRT

1-0563-004

chr20:
41218296-41218296

C

T

intronic

De novo

-

Yuen2017 G

PTPRT

2-1291-003

chr20:
41618161-41618161

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRT

7-0035-003

chr20:
41901320-41901320

G

A

intergenic

De novo

-

Yuen2017 G

PTPRT

2-1089-003

chr20:
41512255-41512255

A

ACACATG

intronic

De novo

-

Yuen2017 G

PTPRT

1-0203-004

chr20:
41661967-41661967

C

T

intronic

De novo

-

Yuen2017 G

PTPRT

AU3907301

chr20:
40791757-40791757

C

T

intronic

De novo

-

Yuen2017 G

PTPRT

AU3907301

chr20:
42011432-42011432

C

T

intergenic

De novo

-

Yuen2017 G

PTPRT

12198.p1

chr20:
41419995-41419995

A

G

exonic

De novo

nonsynonymous SNV

NM_007050
NM_133170

c.T326C
c.T326C

p.F109S
p.F109S

18.37

8.29E-6

Ji2016 E
Krumm2015 E

PTPRT

2-1485-003

chr20:
40811904-40811904

T

A

intronic

De novo

-

Yuen2017 G

PTPRT

2-0019-004

chr20:
41765115-41765115

C

T

intronic

De novo

-

Yuen2017 G

PTPRT

1-0215-006

chr20:
41125125-41125125

C

T

intronic

De novo

-

Yuen2017 G

PTPRT

1-0965-003

chr20:
42004321-42004321

T

C

intergenic

De novo

-

Yuen2017 G

PTPRT

2-0070-004

chr20:
41632688-41632688

G

C

intronic

De novo

-

Yuen2017 G

PTPRT

2-1261-004

chr20:
41699275-41699275

C

A

intronic

De novo

-

Yuen2017 G

PTPRT

AU3451301

chr20:
41339569-41339569

T

C

intronic

De novo

-

Yuen2017 G

PTPRT

AU066206

chr20:
42011126-42011126

G

A

intergenic

De novo

-

Yuen2017 G

PTPRT

2-1461-003

chr20:
40998713-40998713

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRT

1-0044-003

chr20:
41859957-41859957

C

A

intergenic

De novo

-

Yuen2017 G

PTPRT

2-0310-003

chr20:
41324799-41324799

C

A

intronic

De novo

-

Yuen2017 G

PTPRT

2-1620-003

chr20:
41512610-41512610

C

CCCCTAT

intronic

De novo

-

Yuen2017 G

PTPRT

AU2458302

chr20:
41932154-41932154

C

T

intergenic

De novo

-

Yuen2017 G

PTPRT

2-0310-003

chr20:
41195812-41195812

C

A

intronic

De novo

-

Yuen2017 G

PTPRT

1336001

chr20:
40738945-40738945

C

T

intronic

De novo

-

Satterstrom2020 E

PTPRT

AU3874303

chr20:
41451374-41451374

A

G

intronic

De novo

-

Yuen2017 G

PTPRT

AU3713301

chr20:
41546624-41546624

C

T

intronic

De novo

-

Yuen2017 G

PTPRT

2-1456-003

chr20:
42051892-42051892

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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