Variant Results

or

or

Results for "PTPN7"

Variant Events: 16

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

PTPN7

5-5035-003

chr1:
202124520-202124520

G

A

intronic

De novo

-

-

Trost2022 G

PTPN7

7-0298-004

chr1:
202116554-202116554

A

C

UTR3

De novo

-

-

Trost2022 G

PTPN7

14581.p1

chr1:
202119524-202119524

T

C

exonic

Mosaic, De novo

nonsynonymous SNV

NM_080588
NM_001199797
NM_002832

c.A1021G
c.A1126G
c.A1219G

p.I341V
p.I376V
p.I407V

20.9

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

PTPN7

Lim2017:70524

chr1:
202119524-202119524

T

C

exonic

De novo

nonsynonymous SNV

NM_080588
NM_001199797
NM_002832

c.A1021G
c.A1126G
c.A1219G

p.I341V
p.I376V
p.I407V

20.9

-

Lim2017 E

PTPN7

mAGRE2412

chr1:
202129795-202129795

C

T

exonic

Paternal

stopgain

NM_002832

c.G141A

p.W47X

45.0

-

Cirnigliaro2023 G

PTPN7

mAGRE2410

chr1:
202129795-202129795

C

T

exonic

Paternal

stopgain

NM_002832

c.G141A

p.W47X

45.0

-

Cirnigliaro2023 G

PTPN7

mAGRE5320

chr1:
202129719-202129719

G

A

exonic

Maternal

stopgain

NM_002832

c.C217T

p.Q73X

45.0

Cirnigliaro2023 G

PTPN7

mAGRE1339

chr1:
202129719-202129719

G

A

exonic

Paternal

stopgain

NM_002832

c.C217T

p.Q73X

45.0

Cirnigliaro2023 G

PTPN7

AU1988301

chr1:
202116369-202116369

G

A

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

PTPN7

iHART1339

chr1:
202129719-202129719

G

A

exonic

Paternal

stopgain

NM_002832

c.C217T

p.Q73X

45.0

Ruzzo2019 G

PTPN7

mAGRE4979

chr1:
202128422-202128422

G

A

exonic

Paternal

stopgain

NM_080588
NM_001199797
NM_002832

c.C226T
c.C331T
c.C424T

p.R76X
p.R111X
p.R142X

32.0

Cirnigliaro2023 G

PTPN7

iHART2412

chr1:
202129795-202129795

C

T

exonic

Paternal

stopgain

NM_002832

c.G141A

p.W47X

45.0

-

Ruzzo2019 G

PTPN7

AC03-1002-01

chr1:
202117746-202117746

T

G

exonic

De novo

nonsynonymous SNV

NM_080588
NM_001199797
NM_002832

c.A1188C
c.A1293C
c.A1386C

p.E396D
p.E431D
p.E462D

8.626

-

Fu2022 E

PTPN7

iHART2410

chr1:
202129795-202129795

C

T

exonic

Paternal

stopgain

NM_002832

c.G141A

p.W47X

45.0

-

Ruzzo2019 G

PTPN7

70524

chr1:
202119524-202119524

T

C

exonic

De novo

nonsynonymous SNV

NM_080588
NM_001199797
NM_002832

c.A1021G
c.A1126G
c.A1219G

p.I341V
p.I376V
p.I407V

20.9

-

Fu2022 E
Trost2022 G

PTPN7

7-0140-003

chr1:
202125783-202125783

A

T

intronic

De novo

-

-

Trost2022 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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