Variant Results

or

or

Results for "PTPN21"

Variant Events: 18

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

PTPN21

AU4089301

chr14:
88962503-88962503

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PTPN21

AU009805

chr14:
89010292-89010292

C

T

intronic

De novo

-

-

Yuen2017 G

PTPN21

AU3729301

chr14:
89023627-89023627

T

C

intergenic

De novo

-

-

Yuen2017 G

PTPN21

AU3368302

chr14:
89011317-89011317

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PTPN21

AU3790301

chr14:
89008244-89008244

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PTPN21

MSSNG00405-003

chr14:
88975097-88975097

A

T

intronic

De novo

-

-

Trost2022 G

PTPN21

mAGRE5105

chr14:
88946412-88946414

TCA

T

exonic

Maternal

frameshift deletion

NM_007039

c.1361_1362del

p.V454fs

-

-

Cirnigliaro2023 G

PTPN21

MSSNG00184-003

chr14:
88973155-88973155

G

A

intronic

De novo

-

-

Trost2022 G

PTPN21

MT_22.3

chr14:
88973161-88973161

G

T

intronic

De novo

-

-

Trost2022 G

PTPN21

REACH000222

chr14:
88954339-88954339

G

A

intronic

De novo

-

-

Trost2022 G

PTPN21

2-0143-005

chr14:
88945264-88945264

C

A

exonic

De novo

synonymous SNV

NM_007039

c.G2511T

p.G837G

-

-

Yuen2015 G

PTPN21

AU070703

chr14:
88957283-88957283

C

T

intronic

De novo

-

-

Trost2022 G

PTPN21

SP0116146

chr14:
88938739-88938739

C

T

exonic

De novo

nonsynonymous SNV

NM_007039

c.G2720A

p.R907Q

24.5

-

Trost2022 G

PTPN21

SP0151773

chr14:
88945396-88945396

C

A

exonic

De novo

nonsynonymous SNV

NM_007039

c.G2379T

p.M793I

5.814

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PTPN21

AU4054301

chr14:
89015711-89015711

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PTPN21

14590.p1

chr14:
88934157-88934157

C

G

UTR3

De novo

-

-

Turner2016 G

PTPN21

1-0841-003

chr14:
88945801-88945801

G

T

exonic

De novo

synonymous SNV

NM_007039

c.C1974A

p.S658S

-

Yuen2017 G
Zhou2022 GE

PTPN21

DEASD_4034_001

chr14:
88946491-88946491

C

A

exonic

De novo

nonsynonymous SNV

NM_007039

c.G1284T

p.R428S

17.93

-

Fu2022 E

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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