Variant Results

or

Results for "GLI3"

Variant Events: 74

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

GLI3

AU4234302

chr7:
41912905-41912905

A

G

intergenic

De novo

-

Yuen2017 G

GLI3

1-0375-003

chr7:
42486267-42486267

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GLI3

1-0485-003

chr7:
42606212-42606212

A

G

intergenic

De novo

-

Yuen2017 G

GLI3

1-0998-003

chr7:
42306418-42306418

T

C

intergenic

De novo

-

Yuen2017 G

GLI3

1-0138-004

chr7:
42271898-42271898

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GLI3

2-0135-003

chr7:
42040778-42040778

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GLI3

2-1339-003

chr7:
42598071-42598074

GTTC

G

intergenic

De novo

-

Yuen2017 G

GLI3

13210_p1

chr7:
42004243-42004243

G

A

exonic

De novo

synonymous SNV

NM_000168

c.C4428T

p.N1476N

-

Fu2022 E

GLI3

2-1719-003

chr7:
41952862-41952862

T

C

intergenic

De novo

-

Yuen2017 G

GLI3

AU2711303

chr7:
42080739-42080739

T

C

intronic

De novo

-

Yuen2017 G

GLI3

2-1155-003

chr7:
41978235-41978235

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GLI3

2-1719-003

chr7:
42577437-42577437

T

C

intergenic

De novo

-

Yuen2017 G

GLI3

2-1362-004

chr7:
42433996-42433996

A

G

intergenic

De novo

-

Yuen2017 G

GLI3

AU3343301

chr7:
42001668-42001668

G

A

UTR3

De novo

-

Trost2022 G
Yuen2017 G

GLI3

1-0150-004

chr7:
41928724-41928724

C

T

intergenic

De novo

-

Yuen2017 G

GLI3

NDAR_INVMT684YC0_wes1

chr7:
42005456-42005456

T

G

exonic

De novo

nonsynonymous SNV

NM_000168

c.A3215C

p.N1072T

24.6

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GLI3

2-0306-004

chr7:
42019958-42019958

G

A

intronic

De novo

-

Yuen2017 G

GLI3

3-0432-000

chr7:
42475670-42475670

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GLI3

2-0003-004

chr7:
42339360-42339360

C

T

intergenic

De novo

-

Yuen2017 G

GLI3

AU4473301

chr7:
42267776-42267776

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GLI3

AU4173301

chr7:
42312819-42312819

C

T

intergenic

De novo

-

Yuen2017 G

GLI3

2-0306-003

chr7:
42019958-42019958

G

A

intronic

De novo

-

Yuen2016 G

GLI3

AU3052301

chr7:
42632246-42632246

T

G

intergenic

De novo

-

Yuen2017 G

GLI3

2-1288-003

chr7:
41930910-41930910

G

C

intergenic

De novo

-

Yuen2017 G

GLI3

Mahjani2021:63

chr7:
42012220-42012220

A

G

exonic

nonsynonymous SNV

NM_000168

c.T1819C

p.Y607H

25.9

-

Mahjani2021 E

GLI3

2-1333-003

chr7:
42511386-42511386

T

G

intergenic

De novo

-

Yuen2017 G

GLI3

1-0571-003

chr7:
42513632-42513632

T

C

intergenic

De novo

-

Yuen2017 G

GLI3

2-1440-003

chr7:
42401206-42401206

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GLI3

AU2792302

chr7:
42178181-42178181

G

A

intronic

De novo

-

Yuen2017 G

GLI3

AU003405

chr7:
42669291-42669291

G

A

intergenic

De novo

-

Yuen2017 G

GLI3

IGM10945

chr7:
42079736-42079736

A

T

exonic

De novo

nonsynonymous SNV

NM_000168

c.T929A

p.I310K

27.7

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GLI3

2-1725-003

chr7:
42007126-42007126

G

A

intronic

De novo

-

Yuen2017 G

GLI3

AU039305

chr7:
42064062-42064062

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GLI3

SP0065253

chr7:
42063233-42063233

G

C

intronic

De novo

-

Fu2022 E

GLI3

5-0061-003

chr7:
42663957-42663957

T

C

intergenic

De novo

-

Yuen2017 G

GLI3

12605.p1

chr7:
42112333-42112333

C

T

intronic

De novo

-

Werling2018 G
Wilfert2021 G

GLI3

60-2027

chr7:
42438427-42438427

A

T

intergenic

De novo

-

Michaelson2012 G

GLI3

AU4012302

chr7:
42207263-42207263

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GLI3

AU3368303

chr7:
41957323-41957323

A

T

intergenic

De novo

-

Yuen2017 G

GLI3

1-1215-003

chr7:
42060269-42060269

T

A

intronic

De novo

-

Trost2022 G

GLI3

SP0066747

chr7:
42063210-42063210

G

T

intronic

De novo

-

Trost2022 G

GLI3

AU031203

chr7:
42232831-42232831

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GLI3

3-0066-001

chr7:
42002574-42002574

T

G

UTR3

De novo

-

Trost2022 G

GLI3

1-0868-003

chr7:
41864473-41864473

G

A

intergenic

De novo

-

Yuen2017 G

GLI3

MSSNG00050-003

chr7:
42018671-42018671

G

C

intronic

De novo

-

Trost2022 G

GLI3

1-0554-003

chr7:
42504128-42504128

G

A

intergenic

De novo

-

Yuen2017 G

GLI3

2-1723-003

chr7:
42148189-42148189

T

A

intronic

De novo

-

Trost2022 G

GLI3

AU4308302

chr7:
42688076-42688076

T

G

intergenic

De novo

-

Yuen2017 G

GLI3

1-0603-003

chr7:
42154655-42154655

A

G

intronic

De novo

-

Trost2022 G

GLI3

MSSNG00371-003

chr7:
42121785-42121785

G

A

intronic

De novo

-

Trost2022 G

GLI3

7-0469-003

chr7:
42124189-42124189

C

T

intronic

De novo

-

Trost2022 G

GLI3

7-0012-003

chr7:
42340463-42340463

G

T

intergenic

De novo

-

Yuen2017 G

GLI3

MSSNG00345-003

chr7:
42094461-42094461

T

A

intronic

De novo

-

Trost2022 G

GLI3

7-0478-003

chr7:
42097066-42097066

C

A

intronic

De novo

-

Trost2022 G

GLI3

1-1018-003

chr7:
42084485-42084485

A

G

intronic

De novo

-

Trost2022 G

GLI3

SJD_68.3

chr7:
42089489-42089489

G

A

intronic

De novo

-

Trost2022 G

GLI3

1024

chr7:
42232502-42232502

G

A

intronic

De novo

-

Trost2022 G

GLI3

2-1357-004

chr7:
42697792-42697792

T

C

intergenic

De novo

-

Yuen2017 G

GLI3

3-0742-000

chr7:
42203182-42203182

C

T

intronic

De novo

-

Trost2022 G

GLI3

REACH000154

chr7:
42227640-42227640

C

A

intronic

De novo

-

Trost2022 G

GLI3

13210.p1

chr7:
42004243-42004243

G

A

exonic

De novo

synonymous SNV

NM_000168

c.C4428T

p.N1476N

-

Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

GLI3

MSSNG00361-003

chr7:
42180877-42180877

T

C

intronic

De novo

-

Trost2022 G

GLI3

MSSNG00350-003

chr7:
42186278-42186278

A

G

intronic

De novo

-

Trost2022 G

GLI3

MSSNG00033-003

chr7:
42155338-42155338

G

T

intronic

De novo

-

Trost2022 G

GLI3

AM04ZF-03

chr7:
42155484-42155484

C

T

intronic

De novo

-

Trost2022 G

GLI3

2-1352-003

chr7:
42136546-42136546

C

A

intronic

De novo

-

Yuen2016 G

GLI3

AU2495301

chr7:
41929952-41929952

T

G

intergenic

De novo

-

Yuen2017 G

GLI3

1-0107-003

chr7:
42193946-42193946

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

GLI3

1-0330-004

chr7:
41827079-41827079

T

C

intergenic

De novo

-

Yuen2017 G

GLI3

AU4159302

chr7:
42448795-42448795

C

A

intergenic

De novo

-

Yuen2017 G

GLI3

12795.p1

chr7:
41930880-41930880

A

T

intergenic

De novo

-

Turner2016 G

GLI3

2-1605-003

chr7:
42341327-42341327

T

C

intergenic

De novo

-

Yuen2017 G

GLI3

AU4069302

chr7:
42670924-42670924

A

G

intergenic

De novo

-

Yuen2017 G

GLI3

AU4069302

chr7:
42670959-42670959

G

A

intergenic

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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