Variant Results

or

Results for "PBX3"

Variant Events: 38

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

PBX3

1-0745-003

chr9:
128783971-128783971

C

G

intergenic

De novo

-

Yuen2017 G

PBX3

A32

chr9:
129007602-129007602

G

A

intergenic

De novo

-

Wu2018 G

PBX3

1-0494-003A

chr9:
128790838-128790838

T

C

intergenic

De novo

-

Yuen2017 G

PBX3

5-0114-003

chr9:
128782253-128782260

TGAGAGAG

TGAGAG

intergenic

De novo

-

Yuen2017 G

PBX3

NP147

chr9:
128509871-128509871

G

A

exonic

De novo

nonsynonymous SNV

NM_006195

c.G139A

p.G47S

27.4

-

Lim2017 E

PBX3

1-0496-003

chr9:
128744181-128744181

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PBX3

2-1416-003

chr9:
128991931-128991931

G

A

intergenic

De novo

-

Yuen2017 G

PBX3

AU4444304

chr9:
128854610-128854610

A

G

intergenic

De novo

-

Yuen2017 G

PBX3

AC02-1177-01

chr9:
128678099-128678099

G

C

exonic

De novo

nonsynonymous SNV

NM_001134778
NM_006195

c.G184C
c.G409C

p.A62P
p.A137P

14.53

-

DeRubeis2014 E
Kosmicki2017 E

PBX3

1-0387-003

chr9:
128759928-128759928

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PBX3

1-0158-003

chr9:
128634976-128634976

T

C

intronic

De novo

-

Yuen2017 G

PBX3

1-0629-003

chr9:
128914642-128914642

C

T

intergenic

De novo

-

Yuen2017 G

PBX3

AU4015303

chr9:
128806202-128806202

A

C

intergenic

De novo

-

Yuen2017 G

PBX3

AU1860301

chr9:
128538986-128538986

A

T

intronic

De novo

-

Yuen2017 G

PBX3

1-0777-003

chr9:
128836103-128836103

C

T

intergenic

De novo

-

Yuen2017 G

PBX3

AU072905

chr9:
128935790-128935790

C

A

intergenic

De novo

-

Yuen2017 G

PBX3

AU3857301

chr9:
128658572-128658572

A

G

intronic

De novo

-

Yuen2017 G

PBX3

2-1180-003

chr9:
128910391-128910391

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PBX3

2-1416-004

chr9:
128991931-128991931

G

A

intergenic

De novo

-

Yuen2017 G

PBX3

7-0219-003

chr9:
128533311-128533311

T

A

intronic

De novo

-

Yuen2017 G

PBX3

AU017704

chr9:
128647060-128647062

ACC

ACCC

intronic

De novo

-

Yuen2017 G

PBX3

A14

chr9:
128764405-128764405

G

C

intergenic

De novo

-

Wu2018 G

PBX3

2-1134-003

chr9:
129004118-129004118

C

T

intergenic

De novo

-

Yuen2017 G

PBX3

1-0546-003

chr9:
128729285-128729285

C

G

UTR3

De novo

-

Yuen2017 G

PBX3

AU075803

chr9:
128842204-128842204

G

A

intergenic

De novo

-

Yuen2017 G

PBX3

2-0244-004

chr9:
128725668-128725668

G

A

intronic

De novo

-

Yuen2017 G

PBX3

2-1421-003

chr9:
128711001-128711001

A

G

intronic

De novo

-

Yuen2017 G

PBX3

3-0446-000

chr9:
128834373-128834373

A

G

intergenic

De novo

-

Yuen2016 G

PBX3

AU072505

chr9:
128768484-128768484

C

T

intergenic

De novo

-

Yuen2017 G

PBX3

1-0551-004

chr9:
128870574-128870574

C

T

intergenic

De novo

-

Yuen2017 G

PBX3

1-0231-004

chr9:
128747733-128747733

C

CATCACCA

intergenic

De novo

-

Yuen2017 G

PBX3

13023.p1

chr9:
128936624-128936624

C

T

intergenic

De novo

-

Turner2016 G

PBX3

1-0059-003

chr9:
128952945-128952945

C

CAGCT

intergenic

De novo

-

Yuen2017 G

PBX3

2-1525-003

chr9:
129028456-129028456

T

A

intergenic

De novo

-

Yuen2017 G

PBX3

AU4343302

chr9:
128560765-128560765

A

T

intronic

De novo

-

Yuen2017 G

PBX3

1-0323-004

chr9:
128977316-128977316

T

C

intergenic

De novo

-

Yuen2017 G

PBX3

5-0087-003

chr9:
128772665-128772665

G

A

intergenic

De novo

-

Yuen2017 G

PBX3

JASD_Fam0190

chr9:
128509871-128509871

G

A

exonic

De novo

nonsynonymous SNV

NM_006195

c.G139A

p.G47S

27.4

-

Takata2018 E

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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