Variant Results

or

Results for "PTPN11"

Variant Events: 25

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

PTPN11

2-0503-003

chr12:
113016549-113016549

G

A

intergenic

De novo

-

Yuen2017 G

PTPN11

SSC03013

chr12:
112924272-112924273

AC

A

intronic

-

Antaki2022 GE

PTPN11

2-1167-003

chr12:
112920433-112920433

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PTPN11

11625_p1

chr12:
112924272-112924273

AC

A

intronic

De novo

-

Fu2022 E

PTPN11

Ishay2021:27

chr12:
112926888-112926888

G

A

exonic

De novo

nonsynonymous SNV

NM_002834

c.G1508A

p.G503E

34.0

-

Ishay2021 E

PTPN11

1-0385-003

chr12:
112882845-112882860

ATGTGTGTGTGTGTGT

ATGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

PTPN11

11625.p1

chr12:
112924272-112924273

AC

A

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

PTPN11

12989.p1

chr12:
112926888-112926888

G

A

exonic

De novo

nonsynonymous SNV

NM_002834

c.G1508A

p.G503E

34.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G

PTPN11

13324.p1

chr12:
113074570-113074570

A

G

intergenic

De novo

-

Turner2016 G

PTPN11

14590.p1

chr12:
113126110-113126110

A

G

intergenic

De novo

-

Turner2016 G

PTPN11

AU2100302

chr12:
112911189-112911189

C

A

intronic

De novo

-

Yuen2017 G

PTPN11

2-1167-003

chr12:
113085394-113085430

GGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGT

GGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

PTPN11

2-1336-004

chr12:
113090312-113090319

ATTTGTGC

A

intergenic

De novo

-

Yuen2017 G

PTPN11

2-0022-003

chr12:
113082739-113082739

A

C

intergenic

De novo

-

Yuen2017 G

PTPN11

2-0503-004

chr12:
113016549-113016549

G

A

intergenic

De novo

-

Yuen2017 G

PTPN11

SSC06653

chr12:
112926888-112926888

G

A

exonic

De novo

nonsynonymous SNV

NM_002834

c.G1508A

p.G503E

34.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E

PTPN11

3-0169-000

chr12:
112860691-112860691

C

T

intronic

De novo

-

Yuen2016 G

PTPN11

JASD_Fam0049

chr12:
112926270-112926270

C

T

exonic

De novo

nonsynonymous SNV

NM_002834

c.C1403T

p.T468M

26.7

8.236E-6

Takata2018 E

PTPN11

03C16396

chr12:
112926888-112926888

G

A

exonic

Paternal

nonsynonymous SNV

NM_002834

c.G1508A

p.G503E

34.0

-

Stessman2017 T

PTPN11

1-0043-003

chr12:
113113940-113113940

G

T

intergenic

De novo

-

Yuen2017 G

PTPN11

SP0053884

chr12:
112892419-112892419

C

G

exonic

De novo

nonsynonymous SNV

NM_002834
NM_080601

c.C577G
c.C577G

p.L193V
p.L193V

25.5

-

Fu2022 E

PTPN11

SP0088140

chr12:
112856949-112856949

C

T

intronic

De novo

-

Fu2022 E

PTPN11

SP0018023

chr12:
112856924-112856924

G

A

exonic

De novo

synonymous SNV

NM_002834
NM_080601

c.G9A
c.G9A

p.S3S
p.S3S

-

Fu2022 E

PTPN11

AU066404

chr12:
112926888-112926888

G

A

exonic

Unknown

nonsynonymous SNV

NM_002834

c.G1508A

p.G503E

34.0

-

Stessman2017 T

PTPN11

2-1337-003

chr12:
113077014-113077014

C

T

intergenic

De novo

-

Yuen2016 G
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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