Variant Results

or

Results for "PTPN14"

Variant Events: 34

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

PTPN14

2-0306-003

chr1:
214537699-214537699

A

C

intronic

De novo

-

Yuen2016 G

PTPN14

1-0382-004

chr1:
214643090-214643090

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPN14

1-0045-003

chr1:
214598198-214598198

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPN14

1-0323-004

chr1:
214624507-214624507

T

TTTGTTTTTGTTTTTG

intronic

De novo

-

Yuen2017 G

PTPN14

2-1502-003

chr1:
214723112-214723112

T

C

intronic

De novo

-

Yuen2017 G

PTPN14

2-0306-004

chr1:
214537699-214537699

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPN14

1-0262-004A

chr1:
214711134-214711134

C

T

intronic

De novo

-

Trost2022 G

PTPN14

mAGRE5158

chr1:
214557478-214557478

G

A

exonic

Maternal

stopgain

NM_005401

c.C1720T

p.R574X

40.0

-

Cirnigliaro2023 G

PTPN14

mAGRE3090

chr1:
214546069-214546069

C

T

exonic

De novo

nonsynonymous SNV

NM_005401

c.G3021A

p.M1007I

20.6

-

Cirnigliaro2023 G

PTPN14

1-0201-005

chr1:
214624507-214624507

T

TTTGTTTTTGTTTTTG

intronic

De novo

-

Yuen2017 G

PTPN14

1-0232-004

chr1:
214631828-214631828

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPN14

1-0273-004

chr1:
214555640-214555645

CAACTT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPN14

2-1093-009

chr1:
214624507-214624507

T

TTTGTTTTTGTTTTTG

intronic

De novo

-

Yuen2017 G

PTPN14

14213.p1

chr1:
214638045-214638045

C

T

exonic

De novo

synonymous SNV

NM_005401

c.G102A

p.E34E

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

PTPN14

iHART3090

chr1:
214546069-214546069

C

T

exonic

De novo

nonsynonymous SNV

NM_005401

c.G3021A

p.M1007I

20.6

-

Ruzzo2019 G

PTPN14

DEASD_0262_001

chr1:
214557735-214557735

G

A

exonic

De novo

nonsynonymous SNV

NM_005401

c.C1463T

p.P488L

24.2

2.471E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PTPN14

7-0222-003

chr1:
214619817-214619817

T

C

intronic

De novo

-

Yuen2017 G

PTPN14

2-1526-003

chr1:
214608840-214608840

T

TA

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPN14

1-0469-005

chr1:
214565193-214565193

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPN14

SSC11148

chr1:
214638045-214638045

C

T

exonic

De novo

synonymous SNV

NM_005401

c.G102A

p.E34E

-

Fu2022 E
Lim2017 E
Trost2022 G

PTPN14

AU011903

chr1:
214736499-214736499

G

C

intergenic

De novo

-

Yuen2017 G

PTPN14

AU2293301

chr1:
214766120-214766124

ATTAG

A

intergenic

De novo

-

Yuen2017 G

PTPN14

5-0003-004

chr1:
214560197-214560197

G

A

exonic

De novo

synonymous SNV

NM_005401

c.C1056T

p.H352H

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

PTPN14

1-0263-003

chr1:
214748343-214748343

C

G

intergenic

De novo

-

Yuen2016 G

PTPN14

3-0228-000

chr1:
214627103-214627103

G

A

intronic

De novo

-

Trost2022 G

PTPN14

1-0052-004

chr1:
214624507-214624507

T

TTTGTTTTTGTTTTTG

intronic

De novo

-

Yuen2017 G

PTPN14

1-0362-003

chr1:
214555640-214555645

CAACTT

C

intronic

De novo

-

Trost2022 G

PTPN14

MSSNG00257-005

chr1:
214660545-214660545

G

A

intronic

De novo

-

Trost2022 G

PTPN14

7-0215-003

chr1:
214606902-214606902

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPN14

2-1751-003

chr1:
214653004-214653005

AC

A

intronic

De novo

-

Trost2022 G

PTPN14

SP0110580

chr1:
214625292-214625292

A

C

exonic

De novo

nonsynonymous SNV

NM_005401

c.T200G

p.L67R

12.52

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PTPN14

SP0105324

chr1:
214542865-214542865

A

G

exonic

De novo

nonsynonymous SNV

NM_005401

c.T3206C

p.V1069A

21.5

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PTPN14

MT_161.3

chr1:
214553131-214553131

T

C

intronic

De novo

-

Trost2022 G

PTPN14

SP0066059

chr1:
214556829-214556829

C

A

exonic

De novo

nonsynonymous SNV

NM_005401

c.G2369T

p.S790I

7.281

-

Fu2022 E
Trost2022 G
Zhou2022 GE

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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