Variant Results

or

Results for "PTPN13"

Variant Events: 20

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

PTPN13

12528.p1

chr4:
87718120-87718120

G

A

intronic

De novo

-

2.0E-4

Iossifov2014 E
Kosmicki2017 E

PTPN13

13069.p1

chr4:
87741946-87741946

C

T

intergenic

De novo

-

Turner2016 G

PTPN13

68584

chr4:
87696594-87696594

G

A

splicing

De novo

splicing

18.62

-

Fu2022 E

PTPN13

09C98906

chr4:
87705622-87705622

C

G

exonic

De novo

nonsynonymous SNV

NM_080684
NM_006264
NM_080683
NM_080685

c.C5456G
c.C5972G
c.C6029G
c.C6044G

p.A1819G
p.A1991G
p.A2010G
p.A2015G

3.445

1.0E-4

DeRubeis2014 E
Kosmicki2017 E

PTPN13

SP0001854

chr4:
87643520-87643520

T

C

exonic

De novo

nonsynonymous SNV

NM_006264
NM_080683
NM_080684
NM_080685

c.T1541C
c.T1541C
c.T1541C
c.T1541C

p.L514P
p.L514P
p.L514P
p.L514P

20.4

-

Feliciano2019 E
Fu2022 E

PTPN13

iHART1220

chr4:
87691137-87691137

G

C

splicing

Paternal

splicing

25.2

-

Ruzzo2019 G

PTPN13

SP0033451

chr4:
87695604-87695604

A

C

exonic

De novo

nonsynonymous SNV

NM_080684
NM_006264
NM_080683
NM_080685

c.A4855C
c.A5371C
c.A5428C
c.A5443C

p.I1619L
p.I1791L
p.I1810L
p.I1815L

12.95

-

Fu2022 E

PTPN13

iHART1221

chr4:
87691137-87691137

G

C

splicing

Paternal

splicing

25.2

-

Ruzzo2019 G

PTPN13

A4

chr4:
87654760-87654760

A

G

intronic

De novo

-

Wu2018 G

PTPN13

SP0027116

chr4:
87705573-87705573

T

A

intronic

De novo

-

Fu2022 E

PTPN13

SP0030202

chr4:
87705692-87705692

A

G

exonic

De novo

synonymous SNV

NM_080684
NM_006264
NM_080683
NM_080685

c.A5526G
c.A6042G
c.A6099G
c.A6114G

p.P1842P
p.P2014P
p.P2033P
p.P2038P

-

8.959E-6

Fu2022 E

PTPN13

1-0453-003

chr4:
87680293-87680293

T

C

intronic

De novo

-

Yuen2017 G

PTPN13

Lim2017:68584

chr4:
87696594-87696594

G

A

splicing

De novo

splicing

18.62

-

Lim2017 E

PTPN13

ASC_2H199

chr4:
87685810-87685810

C

T

exonic

De novo

nonsynonymous SNV

NM_080684
NM_006264
NM_080683
NM_080685

c.C3509T
c.C4025T
c.C4082T
c.C4082T

p.P1170L
p.P1342L
p.P1361L
p.P1361L

6.805

-

Fu2022 E

PTPN13

GEA376

chr4:
87730935-87730935

G

A

exonic

De novo

nonsynonymous SNV

NM_080684
NM_006264
NM_080683
NM_080685

c.G6524A
c.G7040A
c.G7097A
c.G7112A

p.R2175H
p.R2347H
p.R2366H
p.R2371H

19.76

3.313E-5

Fu2022 E

PTPN13

7-0095-004

chr4:
87533594-87533594

T

C

intronic

De novo

-

Yuen2017 G

PTPN13

3-0330-000

chr4:
87705691-87705691

C

A

exonic

De novo

nonsynonymous SNV

NM_080684
NM_006264
NM_080683
NM_080685

c.C5525A
c.C6041A
c.C6098A
c.C6113A

p.P1842Q
p.P2014Q
p.P2033Q
p.P2038Q

0.028

-

Tammimies2015 E

PTPN13

AU4234302

chr4:
87590990-87590990

T

G

intronic

De novo

-

Yuen2017 G

PTPN13

1-0547-003

chr4:
87564166-87564166

G

C

intronic

De novo

-

Yuen2017 G

PTPN13

11453.p1

chr4:
87696594-87696594

G

A

splicing

De novo

splicing

18.62

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 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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