Variant Results

or

Results for "TSEN2"

Variant Events: 13

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

TSEN2

1-0119-004

chr3:
12547268-12547269

AT

GC

intronic

De novo

-

Trost2022 G

TSEN2

3-0208-000

chr3:
12557382-12557382

G

T

intronic

De novo

-

Trost2022 G

TSEN2

3-0114-000

chr3:
12526359-12526359

G

C

UTR5

De novo

-

Trost2022 G

TSEN2

13144.p1

chr3:
12570418-12570418

T

C

exonic

De novo

synonymous SNV

NM_001145393
NM_001145395
NM_001145392
NM_025265
NM_001145394

c.T1053C
c.T1053C
c.T1131C
c.T1131C
c.T954C

p.H351H
p.H351H
p.H377H
p.H377H
p.H318H

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

TSEN2

AU054304

chr3:
12569962-12569962

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TSEN2

SSC06956

chr3:
12570418-12570418

T

C

exonic

De novo

synonymous SNV

NM_001145393
NM_001145395
NM_001145392
NM_025265
NM_001145394

c.T1053C
c.T1053C
c.T1131C
c.T1131C
c.T954C

p.H351H
p.H351H
p.H377H
p.H377H
p.H318H

-

Fu2022 E
Lim2017 E
Trost2022 G

TSEN2

3-0711-000A

chr3:
12557614-12557614

C

G

intronic

De novo

-

Trost2022 G

TSEN2

AU2129303

chr3:
12547511-12547511

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TSEN2

TRE_2174

chr3:
12545239-12545239

G

A

exonic

De novo

nonsynonymous SNV

NM_001145392
NM_001145393
NM_001145395
NM_025265
NM_001145394

c.G787A
c.G787A
c.G787A
c.G787A
c.G610A

p.A263T
p.A263T
p.A263T
p.A263T
p.A204T

8.033

-

Fu2022 E

TSEN2

REACH000454

chr3:
12559898-12559898

A

G

intronic

De novo

-

Trost2022 G

TSEN2

AU4239301

chr3:
12536350-12536350

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TSEN2

7-0102-003

chr3:
12567795-12567795

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TSEN2

7-0251-003

chr3:
12556071-12556071

A

C

intronic

De novo

-

Trost2022 G
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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