Variant Results

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Results for "PTPRZ1"

Variant Events: 15

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

PTPRZ1

200675290_1082034269

chr7:
121684623-121684623

G

T

splicing

De novo

splicing

22.7

-

Fu2022 E

PTPRZ1

2-1089-003

chr7:
121705063-121705067

GAGTT

G

intergenic

De novo

-

-

Yuen2017 G

PTPRZ1

AU4433301

Complex Event; expand row to view variants

De novo

-

-

Yuen2017 G
Yuen2017 G

PTPRZ1

CC1134_202

chr7:
121651598-121651598

G

A

exonic

De novo

nonsynonymous SNV

NM_002851

c.G2498A

p.R833H

0.616

Fu2022 E

PTPRZ1

13971_p1

chr7:
121624123-121624123

A

G

exonic

De novo

nonsynonymous SNV

NM_001206838
NM_001206839
NM_002851

c.A880G
c.A880G
c.A880G

p.R294G
p.R294G
p.R294G

9.873

-

Fu2022 E

PTPRZ1

13971.p1

chr7:
121624123-121624123

A

G

exonic

De novo

nonsynonymous SNV

NM_001206838
NM_001206839
NM_002851

c.A880G
c.A880G
c.A880G

p.R294G
p.R294G
p.R294G

9.873

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

PTPRZ1

2-0149-004

chr7:
121647400-121647400

T

A

intronic

De novo

-

-

Yuen2017 G

PTPRZ1

SP0039900

chr7:
121674214-121674214

T

TAATAGTCGCA

intronic

De novo

-

-

Fu2022 E

PTPRZ1

1-0338-005

chr7:
121633486-121633486

G

A

intronic

De novo

-

-

Yuen2017 G

PTPRZ1

2-0304-003

chr7:
121598000-121598000

C

T

intronic

De novo

-

-

Yuen2017 G

PTPRZ1

CC1134.202

chr7:
121651598-121651598

G

A

exonic

De novo

nonsynonymous SNV

NM_002851

c.G2498A

p.R833H

0.616

Satterstrom2020 E

PTPRZ1

Chen2017:6

chr7:
121684623-121684623

G

T

splicing

De novo

splicing

22.7

-

Chen2017 E

PTPRZ1

3-0434-000

chr7:
121683050-121683050

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

PTPRZ1

200675290@1082034269

chr7:
121684623-121684623

G

T

splicing

De novo

splicing

22.7

-

Satterstrom2020 E

PTPRZ1

1-0190-003

chr7:
121647938-121647938

G

T

intronic

De novo

-

-

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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