Variant Results

or

Results for "EXT1"

Variant Events: 34

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

EXT1

2-1702-003

chr8:
119136517-119136517

A

G

intergenic

De novo

-

Yuen2017 G

EXT1

AU4444304

chr8:
118943577-118943577

T

C

intronic

De novo

-

Yuen2017 G

EXT1

60-2027

chr8:
118938368-118938368

T

C

intronic

De novo

-

Michaelson2012 G

EXT1

14364_p1

chr8:
118831948-118831948

G

A

exonic

De novo

synonymous SNV

NM_000127

c.C1503T

p.L501L

-

4.945E-5

Fu2022 E

EXT1

1-0092-004

chr8:
119193008-119193008

C

T

intergenic

De novo

-

Yuen2017 G

EXT1

14555.p1

chr8:
118830706-118830706

C

T

exonic

Mosaic

nonsynonymous SNV

NM_000127

c.G1600A

p.V534M

22.2

8.236E-6

Dou2017 E
Krupp2017 E

EXT1

AU1988302

chr8:
118935653-118935653

T

A

intronic

De novo

-

Yuen2017 G

EXT1

3-0458-000B

chr8:
118940282-118940282

C

T

intronic

De novo

-

Yuen2017 G

EXT1

AU066206

chr8:
119079651-119079651

T

A

intronic

De novo

-

Yuen2017 G

EXT1

AU056003

chr8:
119041448-119041448

G

A

intronic

De novo

-

Yuen2017 G

EXT1

AU1698302

chr8:
119191279-119191279

T

C

intergenic

De novo

-

Yuen2017 G

EXT1

AU2793303

chr8:
118921269-118921269

G

A

intronic

De novo

-

Yuen2017 G

EXT1

12568.p1

chr8:
118934099-118934099

G

A

intronic

De novo

-

Turner2016 G

EXT1

12793.p1

chr8:
119071796-119071796

C

T

intronic

De novo

-

Turner2016 G

EXT1

AU4033304

chr8:
119090124-119090124

C

T

intronic

De novo

-

Yuen2017 G

EXT1

10C117563

chr8:
119122786-119122786

G

A

exonic

De novo

nonsynonymous SNV

NM_000127

c.C500T

p.S167L

22.2

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

EXT1

7-0151-003

chr8:
118911767-118911767

G

A

intronic

De novo

-

Yuen2017 G

EXT1

AU056803

chr8:
118908799-118908799

C

T

intronic

De novo

-

Yuen2017 G

EXT1

3-0458-000

chr8:
118940282-118940282

C

T

intronic

De novo

-

Yuen2016 G

EXT1

2-1366-004

chr8:
118932403-118932403

A

G

intronic

De novo

-

Yuen2017 G

EXT1

14364.p1

chr8:
118831948-118831948

G

A

exonic

De novo

synonymous SNV

NM_000127

c.C1503T

p.L501L

-

4.945E-5

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

EXT1

AU050910

chr8:
119156364-119156364

G

A

intergenic

De novo

-

Yuen2017 G

EXT1

AU000704

chr8:
119172735-119172735

T

A

intergenic

De novo

-

Yuen2017 G

EXT1

2-1397-003

chr8:
118826334-118826339

GAGAAG

GAG

intronic

De novo

-

Yuen2017 G

EXT1

AU3862305

chr8:
118998285-118998285

G

A

intronic

De novo

-

Yuen2017 G

EXT1

2-1497-003

chr8:
119097359-119097359

A

G

intronic

De novo

-

Yuen2017 G

EXT1

3-0458-000A

chr8:
118940282-118940282

C

T

intronic

De novo

-

Yuen2017 G

EXT1

1-0508-003

chr8:
119090934-119090934

C

A

intronic

De novo

-

Yuen2017 G

EXT1

SP0087503

chr8:
118847782-118847782

G

T

exonic

De novo

stopgain

NM_000127

c.C1065A

p.C355X

18.91

-

Fu2022 E

EXT1

2-1146-003

chr8:
118819567-118819567

C

A

exonic

De novo

nonsynonymous SNV

NM_000127

c.G1772T

p.G591V

33.0

-

Yuen2017 G

EXT1

SP0020914

chr8:
118825190-118825190

C

CTG

exonic

De novo

frameshift insertion

NM_000127

c.1642_1643insCA

p.S548fs

-

Antaki2022 GE
Fu2022 E

EXT1

AU2162302

chr8:
118917408-118917408

G

A

intronic

De novo

-

Yuen2017 G

EXT1

2-1281-003

chr8:
119189253-119189253

C

T

intergenic

De novo

-

Yuen2017 G

EXT1

AU4056302

chr8:
118982603-118982603

C

T

intronic

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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