Variant Results

or

Results for "ITSN2"

Variant Events: 30

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

ITSN2

SP0057007

chr2:
24432151-24432151

T

C

intronic

De novo

-

Fu2022 E

ITSN2

SP0082883

chr2:
24521656-24521656

G

A

exonic

De novo

nonsynonymous SNV

NM_006277
NM_019595
NM_147152

c.C1372T
c.C1372T
c.C1372T

p.R458C
p.R458C
p.R458C

16.08

1.649E-5

Fu2022 E

ITSN2

1-0181-004

chr2:
24451588-24451588

G

A

intronic

De novo

-

Yuen2017 G

ITSN2

iHART1867

chr2:
24443936-24443936

C

T

splicing

Maternal

splicing

20.4

-

Ruzzo2019 G

ITSN2

SP0002835

chr2:
24428072-24428072

G

A

intronic

De novo

-

Fu2022 E

ITSN2

AU3918302

chr2:
24749959-24749959

A

G

intergenic

De novo

-

Yuen2017 G

ITSN2

SP0018819

chr2:
24433755-24433755

C

T

exonic

De novo

nonsynonymous SNV

NM_019595
NM_006277

c.G4070A
c.G4151A

p.R1357Q
p.R1384Q

12.04

8.24E-6

Fu2022 E

ITSN2

11766.p1

chr2:
24518595-24518595

C

T

exonic

De novo

nonsynonymous SNV

NM_006277
NM_019595
NM_147152

c.G1573A
c.G1573A
c.G1573A

p.V525I
p.V525I
p.V525I

11.83

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G

ITSN2

SSC03134

chr2:
24518595-24518595

C

T

exonic

De novo

nonsynonymous SNV

NM_006277
NM_019595
NM_147152

c.G1573A
c.G1573A
c.G1573A

p.V525I
p.V525I
p.V525I

11.83

-

Fu2022 E
Lim2017 E

ITSN2

2-1261-003

chr2:
24687289-24687289

T

C

intergenic

De novo

-

Yuen2017 G

ITSN2

1-0022-004

chr2:
24501275-24501275

A

C

intronic

De novo

-

Yuen2017 G

ITSN2

AU3725302

chr2:
24485927-24485927

C

A

intronic

De novo

-

Yuen2017 G

ITSN2

2-1350-003

chr2:
24687289-24687289

T

C

intergenic

De novo

-

Yuen2017 G

ITSN2

1-0022-003

chr2:
24501275-24501275

A

C

intronic

De novo

-

Yuen2016 G

ITSN2

1-0433-004

chr2:
24556291-24556291

G

A

intronic

De novo

-

Yuen2017 G

ITSN2

ASC_11383-1

chr2:
24522815-24522815

C

T

exonic

De novo

nonsynonymous SNV

NM_006277
NM_019595
NM_147152

c.G1307A
c.G1307A
c.G1307A

p.R436Q
p.R436Q
p.R436Q

17.36

-

Fu2022 E

ITSN2

1-0054-004

chr2:
24729032-24729032

C

T

intergenic

De novo

-

Yuen2017 G

ITSN2

2-0110-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

ITSN2

1-0973-003

chr2:
24631061-24631061

C

T

intergenic

De novo

-

Yuen2017 G

ITSN2

08C78163

chr2:
24522848-24522848

C

T

exonic

De novo

nonsynonymous SNV

NM_006277
NM_019595
NM_147152

c.G1274A
c.G1274A
c.G1274A

p.R425H
p.R425H
p.R425H

18.38

3.296E-5

Fu2022 E
Satterstrom2020 E

ITSN2

1-0265-004

chr2:
24726965-24726965

C

CTATTTATTGTACTTGT

intergenic

De novo

-

Yuen2017 G

ITSN2

1-0324-003

chr2:
24497246-24497246

C

A

intronic

De novo

-

Yuen2017 G

ITSN2

5-0055-003

chr2:
24497126-24497126

G

A

intronic

De novo

-

Yuen2017 G

ITSN2

AU4365302

chr2:
24545840-24545840

T

A

intronic

De novo

-

Yuen2017 G

ITSN2

1-0265-003

chr2:
24726965-24726965

C

CTATTTATTGTACTTGT

intergenic

De novo

-

Yuen2017 G

ITSN2

Cukier2014:7435

chr2:
24435599-24435599

G

A

exonic

Unknown

nonsynonymous SNV

NM_019595
NM_006277

c.C3928T
c.C4009T

p.R1310W
p.R1337W

16.52

0.0288

Cukier2014 E

ITSN2

AU3918301

chr2:
24631494-24631494

C

G

intergenic

De novo

-

Yuen2017 G

ITSN2

AU3918301

chr2:
24635780-24635780

C

T

intergenic

De novo

-

Yuen2017 G

ITSN2

2-0022-003

chr2:
24553259-24553259

G

A

intronic

De novo

-

Yuen2017 G

ITSN2

AU3702306

chr2:
24754979-24754979

C

T

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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