Variant Results

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Results for "PTPN9"

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

PTPN9

AU2100302

chr15:
75826507-75826507

T

C

intronic

De novo

-

-

Yuen2017 G

PTPN9

SJD_69.3

chr15:
75764069-75764069

A

C

intronic

De novo

-

-

Trost2022 G

PTPN9

14284.p1

chr15:
75815580-75815580

G

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_002833

c.C304T

p.R102W

21.5

-

Dou2017 E
Ji2016 E
Krumm2015 E

PTPN9

1-0546-003

chr15:
75869341-75869356

AACACACACACACACA

AACACACACACACA

intronic

De novo

-

-

Yuen2017 G

PTPN9

AU046707

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

PTPN9

7-0441-003

chr15:
75849769-75849779

AAAAAAAACAC

A

intronic

De novo

-

-

Trost2022 G

PTPN9

AU2817301

chr15:
75859386-75859386

T

G

intronic

De novo

-

-

Trost2022 G

PTPN9

MSSNG00255-004

chr15:
75810839-75810839

A

G

intronic

De novo

-

-

Trost2022 G

PTPN9

REACH000721

chr15:
75832808-75832808

C

T

intronic

De novo

-

-

Trost2022 G

PTPN9

MT_35.3

chr15:
75792789-75792789

G

A

intronic

De novo

-

-

Trost2022 G

PTPN9

REACH000627

chr15:
75798000-75798000

A

G

intronic

De novo

-

-

Trost2022 G

PTPN9

MSSNG00423-004

chr15:
75776256-75776256

G

A

intronic

De novo

-

-

Trost2022 G

PTPN9

AU024104

chr15:
75836054-75836054

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PTPN9

4-0102-003

chr15:
75789373-75789375

CTA

C

intronic

De novo

-

-

Trost2022 G

PTPN9

3-0294-000

chr15:
75860018-75860018

C

G

intronic

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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