Variant Results

or

Results for "PTPRM"

Variant Events: 63

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

PTPRM

2-1437-004

chr18:
7952489-7952489

G

A

intronic

De novo

-

Yuen2017 G

PTPRM

12686.p1

chr18:
8143719-8143719

G

A

exonic

De novo

nonsynonymous SNV

NM_001105244
NM_002845

c.G2242A
c.G2242A

p.A748T
p.A748T

35.0

8.237E-6

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

PTPRM

AU3154302

chr18:
7727367-7727367

G

T

intronic

De novo

-

Yuen2017 G

PTPRM

1-0209-003

chr18:
8442473-8442473

C

T

intergenic

De novo

-

Yuen2017 G

PTPRM

7-0219-003

chr18:
8468305-8468305

G

C

intergenic

De novo

-

Yuen2017 G

PTPRM

AU4164301

chr18:
7973896-7973897

TA

TAA

intronic

De novo

-

Yuen2017 G

PTPRM

1-0226-005

chr18:
8156265-8156265

A

C

intronic

De novo

-

Yuen2017 G

PTPRM

1-0226-005

chr18:
7934909-7934909

G

A

intronic

De novo

-

Yuen2017 G

PTPRM

1-0446-003

chr18:
8104071-8104071

A

ATCT

intronic

De novo

-

Yuen2017 G

PTPRM

1-0225-003

chr18:
8463265-8463265

C

T

intergenic

De novo

-

Yuen2017 G

PTPRM

7-0080-003

chr18:
7626934-7626934

C

A

intronic

De novo

-

Yuen2017 G

PTPRM

AU3052302

chr18:
8158215-8158215

G

C

intronic

De novo

-

Yuen2017 G

PTPRM

2-1426-003

chr18:
8463805-8463805

C

T

intergenic

De novo

-

Yuen2017 G

PTPRM

2-1210-003

chr18:
8233066-8233066

G

C

intronic

De novo

-

Yuen2017 G

PTPRM

2-1497-003

chr18:
7838894-7838894

C

T

intronic

De novo

-

Yuen2017 G

PTPRM

313-04-100967

chr18:
8394510-8394510

C

G

exonic

De novo

nonsynonymous SNV

NM_002845
NM_001105244

c.C4206G
c.C4245G

p.I1402M
p.I1415M

24.7

-

Fu2022 E
Satterstrom2020 E

PTPRM

AU1404301

chr18:
8399188-8399188

A

G

intronic

De novo

-

Yuen2017 G

PTPRM

AU051504

chr18:
7576949-7576949

G

A

intronic

De novo

-

Yuen2017 G

PTPRM

3-0456-000

chr18:
8237447-8237461

TTTTTTTTTTTTTTC

T

intronic

De novo

-

Yuen2017 G

PTPRM

AU1860301

chr18:
8224444-8224444

T

A

intronic

De novo

-

Yuen2017 G

PTPRM

AU017703

chr18:
7928183-7928183

C

T

intronic

De novo

-

Yuen2017 G

PTPRM

AU4188302

chr18:
8304331-8304331

C

T

intronic

De novo

-

Yuen2017 G

PTPRM

1-0294-003

chr18:
7941711-7941711

G

C

intronic

De novo

-

Yuen2017 G

PTPRM

21183-33343

chr18:
8384558-8384558

G

A

splicing

Inherited

splicing

23.0

2.0E-4

Callaghan2019 G

PTPRM

2-1737-003

chr18:
8475661-8475661

G

T

intergenic

De novo

-

Yuen2017 G

PTPRM

5-0140-003

chr18:
7584969-7584969

C

T

intronic

De novo

-

Yuen2017 G

PTPRM

AU2139305

chr18:
8225585-8225585

G

A

intronic

De novo

-

Yuen2017 G

PTPRM

1-0282-003

chr18:
8486561-8486561

C

CCCTGGTCTTTACAAAA

intergenic

De novo

-

Yuen2017 G

PTPRM

NDAR_INVDA176HXG_wes1

chr18:
8244097-8244097

G

A

exonic

De novo

nonsynonymous SNV

NM_001105244
NM_002845

c.G2342A
c.G2342A

p.R781Q
p.R781Q

35.0

3.295E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

PTPRM

10C111139

chr18:
8376088-8376088

T

C

exonic

De novo

synonymous SNV

NM_002845
NM_001105244

c.T3177C
c.T3216C

p.T1059T
p.T1072T

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

PTPRM

1-0290-003

chr18:
7943210-7943210

C

T

intronic

De novo

-

Yuen2017 G

PTPRM

AU4099301

chr18:
8045307-8045310

CTGT

CT

intronic

De novo

-

Yuen2017 G

PTPRM

2-0022-003

chr18:
8509467-8509467

G

A

intergenic

De novo

-

Yuen2017 G

PTPRM

1-0835-003

chr18:
8174482-8174482

G

A

intronic

De novo

-

Yuen2017 G

PTPRM

1-0336-004

chr18:
8437009-8437009

A

G

intergenic

De novo

-

Yuen2017 G

PTPRM

1-0498-003

chr18:
8212325-8212325

A

G

intronic

De novo

-

Yuen2017 G

PTPRM

AU3997302

chr18:
7626281-7626281

G

A

intronic

De novo

-

Yuen2017 G

PTPRM

2-1339-003

chr18:
8217477-8217477

A

G

intronic

De novo

-

Yuen2017 G

PTPRM

1-0498-003

chr18:
8602010-8602023

CCACACACACACAC

CCACACACACAC

intergenic

De novo

-

Yuen2017 G

PTPRM

AU3858303

chr18:
8262669-8262669

G

A

intronic

De novo

-

Yuen2017 G

PTPRM

AU3862305

chr18:
8353751-8353751

G

A

intronic

De novo

-

Yuen2017 G

PTPRM

1-0671-003

chr18:
8496257-8496257

C

T

intergenic

De novo

-

Yuen2017 G

PTPRM

SP0029269

chr18:
8069774-8069774

C

T

exonic

De novo

nonsynonymous SNV

NM_001105244
NM_002845

c.C1223T
c.C1223T

p.T408I
p.T408I

26.4

-

Fu2022 E

PTPRM

2-1302-003

chr18:
8247160-8247160

G

A

intronic

De novo

-

Yuen2017 G

PTPRM

2-1364-003

chr18:
8343668-8343668

A

G

intronic

De novo

-

Yuen2017 G

PTPRM

1-0413-003

chr18:
8408041-8408041

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PTPRM

1-0357-003

chr18:
8522011-8522011

A

G

intergenic

De novo

-

Yuen2017 G

PTPRM

SSC04796

chr18:
8143719-8143719

G

A

exonic

De novo

nonsynonymous SNV

NM_001105244
NM_002845

c.G2242A
c.G2242A

p.A748T
p.A748T

35.0

8.237E-6

Fu2022 E

PTPRM

1-0834-003

chr18:
8370285-8370285

G

A

intronic

De novo

-

Yuen2017 G

PTPRM

7-0119-003

chr18:
7917283-7917283

G

A

intronic

De novo

-

Yuen2017 G

PTPRM

08C76897

chr18:
8069950-8069950

C

T

exonic

De novo

nonsynonymous SNV

NM_001105244
NM_002845

c.C1399T
c.C1399T

p.R467W
p.R467W

16.38

1.667E-5

Fu2022 E
Satterstrom2020 E

PTPRM

A5

chr18:
7939788-7939788

C

T

intronic

De novo

-

Wu2018 G

PTPRM

2-1567-004

chr18:
7610587-7610589

CAT

C

intronic

De novo

-

Yuen2017 G

PTPRM

AU2410301

chr18:
8064272-8064272

A

G

intronic

De novo

-

Yuen2017 G

PTPRM

2-1736-003

chr18:
8519710-8519710

A

C

intergenic

De novo

-

Yuen2017 G

PTPRM

2-1094-005

chr18:
7737456-7737456

G

A

intronic

De novo

-

Yuen2017 G

PTPRM

AU072904

chr18:
7894941-7894941

T

G

intronic

De novo

-

Yuen2017 G

PTPRM

2-0272-004

chr18:
8179533-8179533

T

C

intronic

De novo

-

Yuen2017 G

PTPRM

AU3727303

chr18:
7922114-7922114

A

G

intronic

De novo

-

Yuen2017 G

PTPRM

AU066206

chr18:
7889071-7889071

A

G

intronic

De novo

-

Yuen2017 G

PTPRM

1-0403-003

chr18:
8524765-8524765

C

A

intergenic

De novo

-

Yuen2017 G

PTPRM

12540.p1

chr18:
8247997-8247997

G

A

intronic

Mosaic

-

Dou2017 E

PTPRM

AU0638302

chr18:
8452498-8452498

G

A

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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