Variant Results

or

Results for "PTPRN2"

Variant Events: 73

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

PTPRN2

AU3984301

chr7:
157925880-157925880

G

C

intronic

De novo

-

Yuen2017 G

PTPRN2

AU4056301

chr7:
157496674-157496674

C

T

intronic

De novo

-

Yuen2017 G

PTPRN2

1-1000-003

chr7:
157570021-157570021

A

G

intronic

De novo

-

Yuen2017 G

PTPRN2

AU3885305

chr7:
158004719-158004719

T

C

intronic

De novo

-

Yuen2017 G

PTPRN2

AU079204

chr7:
158181253-158181253

C

T

intronic

De novo

-

Yuen2017 G

PTPRN2

5-0003-004

chr7:
157978939-157978939

T

C

intronic

De novo

-

Yuen2017 G

PTPRN2

14271.p1

chr7:
157709768-157709768

T

C

intronic

De novo

-

Wilfert2021 G

PTPRN2

12011.p1

chr7:
157483577-157483577

G

C

intronic

De novo

-

Turner2016 G

PTPRN2

AU028305

chr7:
157467067-157467067

C

T

intronic

De novo

-

Yuen2017 G

PTPRN2

2-1442-003

chr7:
157453697-157453697

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRN2

7-0100-004

chr7:
157802874-157802874

C

T

intronic

De novo

-

Yuen2017 G

PTPRN2

1-0756-004

chr7:
157383039-157383048

AGACCCCTCT

A

intronic

De novo

-

Yuen2017 G

PTPRN2

AU3763305

chr7:
157812669-157812669

C

T

intronic

De novo

-

Yuen2017 G

PTPRN2

Chen2017:88

chr7:
157959743-157959743

C

T

exonic

De novo

nonsynonymous SNV

NM_001308267
NM_130842
NM_001308268
NM_002847
NM_130843

c.G676A
c.G739A
c.G859A
c.G790A
c.G790A

p.E226K
p.E247K
p.E287K
p.E264K
p.E264K

11.93

-

Chen2017 E

PTPRN2

AU3858303

chr7:
157767003-157767003

A

C

intronic

De novo

-

Yuen2017 G

PTPRN2

7-0078-003

chr7:
158255625-158255625

C

T

intronic

De novo

-

Yuen2017 G

PTPRN2

AU4199303

chr7:
157987458-157987458

G

A

intronic

De novo

-

Yuen2017 G

PTPRN2

AU4286302

chr7:
158286036-158286044

TACACACAC

TACAC

intronic

De novo

-

Yuen2017 G

PTPRN2

1-0181-004

chr7:
157820281-157820281

C

T

intronic

De novo

-

Yuen2017 G

PTPRN2

1-0271-004

chr7:
157406986-157406987

CG

C

intronic

De novo

-

Yuen2017 G

PTPRN2

A28

chr7:
157866319-157866319

G

A

intronic

De novo

-

Wu2018 G

PTPRN2

2-0132-004

chr7:
158239052-158239052

G

A

intronic

De novo

-

Yuen2017 G

PTPRN2

2-0296-003

chr7:
157961752-157961752

G

C

intronic

De novo

-

Yuen2017 G

PTPRN2

iHART2624

chr7:
157926370-157926374

CTCTG

C

exonic

Maternal

frameshift deletion

NM_001308267
NM_130842
NM_001308268
NM_002847
NM_130843

c.1437_1440del
c.1500_1503del
c.1620_1623del
c.1551_1554del
c.1551_1554del

p.D479fs
p.D500fs
p.D540fs
p.D517fs
p.D517fs

-

9.044E-6

Ruzzo2019 G

PTPRN2

AU3912301

chr7:
158073853-158073853

C

T

intronic

De novo

-

Yuen2017 G

PTPRN2

08C71698

chr7:
157929368-157929368

G

A

exonic

De novo

synonymous SNV

NM_001308267
NM_130842
NM_001308268
NM_002847
NM_130843

c.C1038T
c.C1101T
c.C1221T
c.C1152T
c.C1152T

p.D346D
p.D367D
p.D407D
p.D384D
p.D384D

-

6.0E-4

Satterstrom2020 E

PTPRN2

1-0222-003

chr7:
157794970-157794970

C

T

intronic

De novo

-

Yuen2017 G

PTPRN2

2-1376-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

PTPRN2

12441.p1

chr7:
157414064-157414064

G

GGCCAGTTTCCACCGCCCGTAACCCAGGCTTCCTGCCCCCAGGGCTGGTACGTACAGGTCAGCACA

exonic

De novo

frameshift insertion

NM_001308267
NM_130842
NM_130843
NM_001308268
NM_002847

c.2219_2220insTGTGCTGACCTGTACGTACCAGCCCTGGGGGCAGGAAGCCTGGGTTACGGGCGGTGGAAACTGGC
c.2282_2283insTGTGCTGACCTGTACGTACCAGCCCTGGGGGCAGGAAGCCTGGGTTACGGGCGGTGGAAACTGGC
c.2246_2247insTGTGCTGACCTGTACGTACCAGCCCTGGGGGCAGGAAGCCTGGGTTACGGGCGGTGGAAACTGGC
c.2402_2403insTGTGCTGACCTGTACGTACCAGCCCTGGGGGCAGGAAGCCTGGGTTACGGGCGGTGGAAACTGGC
c.2333_2334insTGTGCTGACCTGTACGTACCAGCCCTGGGGGCAGGAAGCCTGGGTTACGGGCGGTGGAAACTGGC

p.A740fs
p.A761fs
p.A749fs
p.A801fs
p.A778fs

-

8.664E-6

Satterstrom2020 E

PTPRN2

200675254@1082034986

chr7:
157959743-157959743

C

T

exonic

De novo

nonsynonymous SNV

NM_001308267
NM_130842
NM_001308268
NM_002847
NM_130843

c.G676A
c.G739A
c.G859A
c.G790A
c.G790A

p.E226K
p.E247K
p.E287K
p.E264K
p.E264K

11.93

-

Satterstrom2020 E

PTPRN2

AU0452303

chr7:
158055866-158055866

A

T

intronic

De novo

-

Yuen2017 G

PTPRN2

AU050604

chr7:
157949191-157949191

G

A

intronic

De novo

-

Yuen2017 G

PTPRN2

2-0068-003

chr7:
157854255-157854255

G

A

intronic

De novo

-

Yuen2017 G

PTPRN2

AU3302302

chr7:
158334533-158334533

G

A

intronic

De novo

-

Yuen2017 G

PTPRN2

1-0433-004

chr7:
157741901-157741901

C

A

intronic

De novo

-

Yuen2017 G

PTPRN2

2-1382-003

chr7:
157409801-157409801

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRN2

AU1640302

chr7:
158316353-158316359

AGTCGTC

AGTC

intronic

De novo

-

Yuen2017 G

PTPRN2

2-1731-003

chr7:
158286036-158286044

TACACACAC

TACAC

intronic

De novo

-

Yuen2017 G

PTPRN2

5-0105-003

chr7:
157774602-157774602

G

A

intronic

De novo

-

Yuen2017 G

PTPRN2

7-0001-003

chr7:
157352263-157352263

G

A

intronic

De novo

-

Yuen2017 G

PTPRN2

11C120958

chr7:
157367159-157367159

C

T

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

PTPRN2

AU4183301

chr7:
157364196-157364201

AAGAGA

AAGA

intronic

De novo

-

Yuen2017 G

PTPRN2

12510.p1

chr7:
158109533-158109533

C

T

exonic

De novo

synonymous SNV

NM_130842
NM_001308268
NM_002847
NM_130843

c.G204A
c.G324A
c.G255A
c.G255A

p.A68A
p.A108A
p.A85A
p.A85A

-

7.118E-5

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

PTPRN2

1-0372-003

chr7:
157726545-157726545

A

G

intronic

De novo

-

Yuen2017 G

PTPRN2

1-0372-003

chr7:
157726541-157726541

A

T

intronic

De novo

-

Yuen2017 G

PTPRN2

2-1137-003

chr7:
158132521-158132521

A

G

intronic

De novo

-

Yuen2017 G

PTPRN2

AU4234303

chr7:
157369557-157369557

G

A

intronic

De novo

-

Yuen2017 G

PTPRN2

SSC05285

chr7:
158109533-158109533

C

T

exonic

De novo

synonymous SNV

NM_130842
NM_001308268
NM_002847
NM_130843

c.G204A
c.G324A
c.G255A
c.G255A

p.A68A
p.A108A
p.A85A
p.A85A

-

7.118E-5

Fu2022 E

PTPRN2

2-0145-003

chr7:
157859271-157859271

G

A

intronic

De novo

-

Yuen2017 G

PTPRN2

2-1359-004

chr7:
157548078-157548078

G

A

intronic

De novo

-

Yuen2017 G

PTPRN2

200675254_1082034986

chr7:
157959743-157959743

C

T

exonic

De novo

nonsynonymous SNV

NM_001308267
NM_130842
NM_001308268
NM_002847
NM_130843

c.G676A
c.G739A
c.G859A
c.G790A
c.G790A

p.E226K
p.E247K
p.E287K
p.E264K
p.E264K

11.93

-

Fu2022 E

PTPRN2

SP0059906

chr7:
157903568-157903568

G

A

exonic

De novo

synonymous SNV

NM_001308267
NM_130842
NM_001308268
NM_002847

c.C1482T
c.C1545T
c.C1665T
c.C1596T

p.D494D
p.D515D
p.D555D
p.D532D

-

5.362E-5

Fu2022 E

PTPRN2

2-0122-003

chr7:
158168962-158168962

C

T

intronic

De novo

-

Yuen2017 G

PTPRN2

2-0028-003

chr7:
158060667-158060667

C

T

intronic

De novo

-

Yuen2016 G

PTPRN2

SP0040532

chr7:
157997853-157997853

C

T

intronic

De novo

-

Fu2022 E

PTPRN2

AU3586303

chr7:
157988573-157988575

GGA

G

intronic

De novo

-

Yuen2017 G

PTPRN2

1-0489-003

chr7:
157415390-157415390

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRN2

AU024004

chr7:
157330760-157330760

G

T

downstream

De novo

-

Yuen2017 G

PTPRN2

AU3889305

chr7:
158286036-158286044

TACACACAC

TACAC

intronic

De novo

-

Yuen2017 G

PTPRN2

1-0756-005

chr7:
157383039-157383048

AGACCCCTCT

A

intronic

De novo

-

Yuen2017 G

PTPRN2

2-1375-003

chr7:
157748283-157748283

T

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRN2

AU3858302

chr7:
157840720-157840720

G

A

intronic

De novo

-

Yuen2017 G

PTPRN2

AU3846302

chr7:
158310998-158310998

A

G

intronic

De novo

-

Yuen2017 G

PTPRN2

2-1368-003

chr7:
158314629-158314629

C

T

intronic

De novo

-

Yuen2017 G

PTPRN2

AU3263302

chr7:
157925706-157925706

A

G

intronic

De novo

-

Yuen2017 G

PTPRN2

1-0345-003

chr7:
157392328-157392328

C

T

intronic

De novo

-

Yuen2017 G

PTPRN2

2-1235-004

chr7:
157569694-157569694

T

C

intronic

De novo

-

Yuen2017 G

PTPRN2

1-0627-005

chr7:
157685799-157685805

GAACAAA

GAA

intronic

De novo

-

Yuen2017 G

PTPRN2

AU4007301

chr7:
157638303-157638303

T

C

intronic

De novo

-

Yuen2017 G

PTPRN2

2-1258-003

chr7:
157586893-157586893

C

CCTCCGACCCGGGCTCACACCTCCCCTCGTTCTCTG

intronic

De novo

-

Yuen2017 G

PTPRN2

1-0353-003

chr7:
157564948-157564952

CACAG

C

intronic

De novo

-

Yuen2017 G

PTPRN2

AU3368302

chr7:
157404691-157404691

C

A

intronic

De novo

-

Yuen2017 G

PTPRN2

2-1459-003

chr7:
158348346-158348346

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
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