Variant Results

or

Results for "GLIS3"

Variant Events: 63

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

GLIS3

AU4176302

chr9:
4331317-4331317

C

T

intergenic

De novo

-

Yuen2017 G

GLIS3

1-0441-003

chr9:
4066024-4066039

ATGACCCAAAGAATAT

A

intronic

De novo

-

Yuen2016 G

GLIS3

1-0375-003

chr9:
3971167-3971167

A

G

intronic

De novo

-

Yuen2016 G

GLIS3

2-0006-003

chr9:
4460566-4460566

C

T

intergenic

De novo

-

Yuen2017 G

GLIS3

1-0286-004

chr9:
4330658-4330659

GA

G

intergenic

De novo

-

Yuen2017 G

GLIS3

2-0244-003

chr9:
3966727-3966727

G

A

intronic

De novo

-

Yuen2017 G

GLIS3

2-1605-003

chr9:
3769589-3769589

G

A

intergenic

De novo

-

Yuen2017 G

GLIS3

1-0144-005

chr9:
4270030-4270030

T

C

intronic

De novo

-

Yuen2017 G

GLIS3

5-0140-003

chr9:
3871778-3871778

C

G

intronic

De novo

-

Yuen2017 G

GLIS3

2-1089-004

chr9:
3923317-3923317

A

G

intronic

De novo

-

Yuen2017 G

GLIS3

5-0140-003

chr9:
4020844-4020844

G

A

intronic

De novo

-

Yuen2017 G

GLIS3

AU4159301

chr9:
4008240-4008240

C

A

intronic

De novo

-

Yuen2017 G

GLIS3

2-1089-004

chr9:
3753938-3753938

T

G

intergenic

De novo

-

Yuen2017 G

GLIS3

AU4433301

chr9:
3693232-3693232

G

T

intergenic

De novo

-

Yuen2017 G

GLIS3

1-0513-003

chr9:
3983312-3983312

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GLIS3

1-0597-003

chr9:
3824535-3824539

TAAAA

T

UTR3

De novo

-

Yuen2017 G

GLIS3

AU4188302

chr9:
4007583-4007583

A

G

intronic

De novo

-

Yuen2017 G

GLIS3

Cukier2014:37425

chr9:
4118634-4118634

G

C

exonic

Unknown

nonsynonymous SNV

NM_152629
NM_001042413

c.C379G
c.C844G

p.P127A
p.P282A

12.59

0.002

Cukier2014 E

GLIS3

2-0135-003

chr9:
4176816-4176816

G

GTTTC

intronic

De novo

-

Yuen2017 G

GLIS3

2-1734-003

chr9:
4086374-4086374

G

A

intronic

De novo

-

Yuen2017 G

GLIS3

AU027506

chr9:
4393009-4393009

T

A

intergenic

De novo

-

Yuen2017 G

GLIS3

1-0627-007

chr9:
3906578-3906578

C

T

intronic

De novo

-

Yuen2017 G

GLIS3

AU027506

chr9:
4405619-4405619

G

A

intergenic

De novo

-

Yuen2017 G

GLIS3

AU3730301

chr9:
4444940-4444940

G

A

intergenic

De novo

-

Yuen2017 G

GLIS3

A11

chr9:
3940896-3940896

C

T

intronic

De novo

-

Wu2018 G

GLIS3

1-0218-003

chr9:
3746240-3746240

A

G

intergenic

De novo

-

Yuen2017 G

GLIS3

7-0161-003

chr9:
3947062-3947062

G

C

intronic

De novo

-

Yuen2017 G

GLIS3

AU3343301

chr9:
4353874-4353874

A

T

intergenic

De novo

-

Yuen2017 G

GLIS3

1-0804-003

chr9:
4452676-4452676

A

G

intergenic

De novo

-

Yuen2017 G

GLIS3

7-0249-003

chr9:
4386288-4386288

G

T

intergenic

De novo

-

Yuen2017 G

GLIS3

1-0627-004

chr9:
4037254-4037254

C

T

intronic

De novo

-

Yuen2017 G

GLIS3

AU4239301

chr9:
3764192-3764192

C

T

intergenic

De novo

-

Yuen2017 G

GLIS3

AU1987302

chr9:
4330036-4330036

C

T

intergenic

De novo

-

Yuen2017 G

GLIS3

1-0119-004

chr9:
3876696-3876696

G

GA

intronic

De novo

-

Yuen2017 G

GLIS3

1-0193-003

chr9:
4123720-4123720

A

T

intronic

De novo

-

Yuen2017 G

GLIS3

12377.p1

chr9:
4148382-4148382

T

C

intronic

De novo

-

Werling2018 G

GLIS3

2-1366-003

chr9:
4237129-4237129

C

CAAAAAAAAAAAAAATAAAAT

intronic

De novo

-

Yuen2017 G

GLIS3

2-0198-005

chr9:
4182096-4182096

C

T

intronic

De novo

-

Yuen2017 G

GLIS3

1-0513-003

chr9:
3984876-3984876

G

A

intronic

De novo

-

Yuen2017 G

GLIS3

12011.p1

chr9:
3734604-3734604

T

C

intergenic

De novo

-

Turner2016 G

GLIS3

2-1127-003

chr9:
4385572-4385572

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GLIS3

AGG0016

chr9:
3937073-3937073

A

G

exonic

De novo

synonymous SNV

NM_152629
NM_001042413

c.T1362C
c.T1827C

p.S454S
p.S609S

-

Satterstrom2020 E

GLIS3

AU3712301

chr9:
4417489-4417489

G

C

intergenic

De novo

-

Yuen2017 G

GLIS3

2-1361-003

chr9:
3921831-3921831

T

C

intronic

De novo

-

Yuen2016 G

GLIS3

AU3724301

chr9:
3809769-3809769

A

C

intergenic

De novo

-

Yuen2017 G

GLIS3

5-0026-003

chr9:
3876696-3876696

G

GA

intronic

De novo

-

Yuen2017 G

GLIS3

AU079104

chr9:
4347263-4347263

T

C

intergenic

De novo

-

Yuen2017 G

GLIS3

AU079104

chr9:
4352246-4352246

G

A

intergenic

De novo

-

Yuen2017 G

GLIS3

AU3912303

chr9:
3957999-3957999

C

T

intronic

De novo

-

Yuen2017 G

GLIS3

AU3912303

chr9:
4224411-4224411

G

A

intronic

De novo

-

Yuen2017 G

GLIS3

1-0073-003

chr9:
4370100-4370100

G

A

intergenic

De novo

-

Yuen2017 G

GLIS3

2-1066-003

chr9:
4449122-4449122

T

C

intergenic

De novo

-

Yuen2017 G

GLIS3

1-0452-003

chr9:
3946003-3946003

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GLIS3

2-0198-004

chr9:
4182096-4182096

C

T

intronic

De novo

-

Yuen2017 G

GLIS3

AU2000305

chr9:
3869395-3869395

C

T

intronic

De novo

-

Yuen2017 G

GLIS3

AU4191302

chr9:
4264038-4264038

G

C

intronic

De novo

-

Yuen2017 G

GLIS3

1506001

chr9:
3879494-3879494

G

A

exonic

De novo

stopgain

NM_152629
NM_001042413

c.C1765T
c.C2230T

p.Q589X
p.Q744X

46.0

-

Satterstrom2020 E

GLIS3

1-0632-003

chr9:
3847215-3847215

A

AAAAAAAATAAAATTAAATAAATACATAAAT

intronic

De novo

-

Yuen2017 G

GLIS3

1-0541-004

chr9:
4264010-4264010

C

G

intronic

De novo

-

Yuen2017 G

GLIS3

AU3586303

chr9:
4308685-4308685

C

T

intergenic

De novo

-

Yuen2017 G

GLIS3

1-0433-003

chr9:
3708743-3708743

T

C

intergenic

De novo

-

Yuen2017 G

GLIS3

2-1258-003

chr9:
4009569-4009571

AGG

A

intronic

De novo

-

Yuen2017 G

GLIS3

1701001

chr9:
3828277-3828277

C

G

exonic

De novo

nonsynonymous SNV

NM_152629
NM_001042413

c.G2323C
c.G2788C

p.G775R
p.G930R

20.4

-

Satterstrom2020 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
	More