Variant Results

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Results for "PTPRJ"

Variant Events: 14

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

PTPRJ

1-0300-003

chr11:
48145622-48145622

G

A

intronic

De novo

-

-

Yuen2017 G

PTPRJ

7-0035-003

chr11:
48119999-48119999

G

T

intronic

De novo

-

-

Yuen2017 G

PTPRJ

2-1146-003

chr11:
48056729-48056729

G

T

intronic

De novo

-

-

Yuen2017 G

PTPRJ

14153.p1

chr11:
48153965-48153965

C

A

UTR3

De novo

-

-

Turner2016 G

PTPRJ

A1

chr11:
48158839-48158839

T

C

intronic

De novo

-

-

Wu2018 G

PTPRJ

2-1194-003

chr11:
48124063-48124063

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

PTPRJ

iHART2281

chr11:
48157773-48157774

AC

A

exonic

Paternal

frameshift deletion

NM_002843

c.1799delC

p.T600fs

-

-

Ruzzo2019 G

PTPRJ

iHART2280

chr11:
48157773-48157774

AC

A

exonic

Paternal

frameshift deletion

NM_002843

c.1799delC

p.T600fs

-

-

Ruzzo2019 G

PTPRJ

13542.p1

chr11:
48217158-48217159

TA

T

intergenic

De novo

-

-

Werling2018 G

PTPRJ

2-1093-009

chr11:
48153373-48153373

T

A

UTR3

De novo

-

-

Yuen2017 G

PTPRJ

AU1725302

chr11:
48216957-48216958

AT

A

intergenic

De novo

-

-

Yuen2017 G

PTPRJ

AU024606

chr11:
48234357-48234357

C

A

intergenic

De novo

-

-

Yuen2017 G

PTPRJ

iHART2279

chr11:
48157773-48157774

AC

A

exonic

Paternal

frameshift deletion

NM_002843

c.1799delC

p.T600fs

-

-

Ruzzo2019 G

PTPRJ

iHART1217

chr11:
48142712-48142712

G

A

exonic

Paternal

stopgain

NM_001098503
NM_002843

c.G510A
c.G510A

p.W170X
p.W170X

11.68

-

Ruzzo2019 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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