Variant Results

or

Results for "GLI2"

Variant Events: 37

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

GLI2

1-0417-003

chr2:
121625597-121625597

C

T

intronic

De novo

-

Yuen2016 G

GLI2

SP0093602

chr2:
121684966-121684966

G

C

exonic

De novo

nonsynonymous SNV

NM_005270

c.G178C

p.A60P

0.008

-

Fu2022 E

GLI2

AU4150301

chr2:
121840581-121840581

A

C

intergenic

De novo

-

Yuen2017 G

GLI2

SP0044668

chr2:
121726230-121726230

A

C

intronic

De novo

-

Fu2022 E

GLI2

M21633

chr2:
121708877-121708877

C

T

exonic

Paternal

nonsynonymous SNV

NM_005270

c.C313T

p.P105S

35.0

-

Guo2018 T
Wang2016 T

GLI2

2-1252-003

chr2:
121820327-121820327

G

A

intergenic

De novo

-

Yuen2017 G

GLI2

D3G5A

chr2:
121736074-121736074

C

T

exonic

Unknown

nonsynonymous SNV

NM_005270

c.C1433T

p.T478M

19.84

1.652E-5

Stessman2017 T

GLI2

M08455

chr2:
121744056-121744056

G

A

exonic

Maternal

nonsynonymous SNV

NM_005270

c.G2159A

p.R720H

33.0

5.0E-4

Guo2018 T
Wang2016 T

GLI2

2-1466-003

chr2:
121648338-121648338

G

A

intronic

De novo

-

Yuen2017 G

GLI2

M08725

chr2:
121744100-121744100

G

A

exonic

Maternal

nonsynonymous SNV

NM_005270

c.G2203A

p.E735K

36.0

1.652E-5

Guo2018 T
Wang2016 T

GLI2

AU1795301

chr2:
121857766-121857766

T

A

intergenic

De novo

-

Yuen2017 G

GLI2

Z4A7Y

chr2:
121554977-121554991

CCCGGGTAAAAAGGC

C

exonic

Inherited

frameshift deletion

NM_005270

c.82_95del

p.P28fs

-

Stessman2017 T

GLI2

2-1114-003

chr2:
121841031-121841031

C

T

intergenic

De novo

-

Yuen2017 G

GLI2

AU1107301

chr2:
121726332-121726332

G

A

exonic

Inherited

nonsynonymous SNV

NM_005270

c.G686A

p.R229H

35.0

1.659E-5

Stessman2017 T

GLI2

2-1168-003

chr2:
121921736-121921736

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GLI2

AU3052302

chr2:
121569047-121569047

C

T

intronic

De novo

-

Yuen2017 G

GLI2

AU002903

chr2:
121784698-121784698

G

A

intergenic

De novo

-

Yuen2017 G

GLI2

215-13035-0443

chr2:
121743929-121743929

G

A

exonic

Inherited

nonsynonymous SNV

NM_005270

c.G2032A

p.D678N

35.0

-

Stessman2017 T

GLI2

14110.p1

chr2:
121732630-121732630

A

C

exonic

De novo

nonsynonymous SNV

NM_005270

c.A1313C

p.N438T

19.88

1.0E-4

Satterstrom2020 E

GLI2

AU021503

chr2:
121736022-121736022

G

A

exonic

Unknown

nonsynonymous SNV

NM_005270

c.G1381A

p.E461K

20.8

-

Stessman2017 T

GLI2

AU2089302

chr2:
121891752-121891758

TGTAAGT

TGT

intergenic

De novo

-

Yuen2017 G

GLI2

2-1280-003

chr2:
121830877-121830894

GACACACACACACACACA

GACACACACACACACA

intergenic

De novo

-

Yuen2017 G

GLI2

AU2792302

chr2:
121799562-121799562

C

T

intergenic

De novo

-

Yuen2017 G

GLI2

5-0061-003

chr2:
121828313-121828313

A

G

intergenic

De novo

-

Yuen2017 G

GLI2

PN400301

chr2:
121726338-121726338

G

A

exonic

Unknown

nonsynonymous SNV

NM_005270

c.G692A

p.R231Q

36.0

8.289E-6

Leblond2019 E

GLI2

GX0494.p1

chr2:
121708869-121708869

G

A

exonic

Unknown

nonsynonymous SNV

NM_005270

c.G305A

p.R102Q

34.0

1.0E-4

Guo2018 T

GLI2

M23240

chr2:
121740401-121740401

C

G

exonic

Maternal

nonsynonymous SNV

NM_005270

c.C1628G

p.A543G

32.0

2.0E-4

Wang2016 T

GLI2

2-1317-003

chr2:
121721013-121721031

TTGTGTGTGTGTGTGTGTG

TTGTGTGTGTGTGTGTG

intronic

De novo

-

Yuen2017 G

GLI2

1-0554-003

chr2:
121786886-121786886

C

T

intergenic

De novo

-

Yuen2017 G

GLI2

2-1297-003

chr2:
121815944-121815944

A

G

intergenic

De novo

-

Yuen2017 G

GLI2

AU3885304

chr2:
121709151-121709151

T

A

intronic

De novo

-

Yuen2017 G

GLI2

PN400470

chr2:
121742123-121742123

C

T

exonic

Unknown

nonsynonymous SNV

NM_005270

c.C1760T

p.T587M

25.3

2.472E-5

Leblond2019 E

GLI2

2-1334-003

chr2:
121597953-121597954

AC

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GLI2

M08563

chr2:
121740401-121740401

C

G

exonic

Paternal

nonsynonymous SNV

NM_005270

c.C1628G

p.A543G

32.0

2.0E-4

Wang2016 T

GLI2

AU4007302

chr2:
121576899-121576899

C

T

intronic

De novo

-

Yuen2017 G

GLI2

2-0007-004

chr2:
121822904-121822904

A

AG

intergenic

De novo

-

Yuen2017 G

GLI2

220-9834-201

chr2:
121728108-121728108

A

G

exonic

Inherited

nonsynonymous SNV

NM_005270

c.A985G

p.M329V

10.84

1.649E-5

Stessman2017 T

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
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