Variant Results

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Results for "PTPRN"

Variant Events: 13

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

PTPRN

mAGRE2701

chr2:
220167561-220167561

T

G

splicing

Paternal

splicing

11.77

Cirnigliaro2023 G

PTPRN

SP0125223

chr2:
220161998-220161998

G

A

exonic

De novo

nonsynonymous SNV

NM_001199763
NM_001199764
NM_002846

c.C1958T
c.C1775T
c.C2045T

p.P653L
p.P592L
p.P682L

22.2

Trost2022 G

PTPRN

iHART2701

chr2:
220167561-220167561

T

G

splicing

Paternal

splicing

11.77

Ruzzo2019 G

PTPRN

12052.p1

chr2:
220172126-220172126

C

G

intronic

De novo

-

-

Satterstrom2020 E

PTPRN

V5T5W_01

chr2:
220162911-220162913

CCT

C

intronic

De novo

-

-

Trost2022 G

PTPRN

MT_47.3

chr2:
220155061-220155061

C

A

intronic

De novo

-

-

Trost2022 G

PTPRN

SP0033400

chr2:
220161750-220161750

C

A

exonic

De novo

synonymous SNV

NM_001199763
NM_001199764
NM_002846

c.G2106T
c.G1923T
c.G2193T

p.G702G
p.G641G
p.G731G

-

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

PTPRN

2-0298-003

chr2:
220162072-220162072

C

T

exonic

De novo

synonymous SNV

NM_001199763
NM_001199764
NM_002846

c.G1884A
c.G1701A
c.G1971A

p.V628V
p.V567V
p.V657V

-

-

Trost2022 G
Yuen2015 G
Zhou2022 GE

PTPRN

SP0144990

chr2:
220173909-220173909

C

CCCCCCCCCCCCCCCCCACTTT

intronic

De novo

-

-

Fu2022 E

PTPRN

2-0057-003

chr2:
220180462-220180462

T

C

intergenic

De novo

-

-

Yuen2017 G

PTPRN

7-0024-005

chr2:
220156677-220156677

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PTPRN

SSC04243

chr2:
220172126-220172126

C

G

intronic

De novo

-

-

Trost2022 G

PTPRN

5-5209-003

chr2:
220174210-220174210

G

A

UTR5

De novo

-

-

Trost2022 G

Source Variant Information

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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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