Variant Results

or

Results for "TSNARE1"

Variant Events: 27

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

TSNARE1

1-0330-004

chr8:
143353964-143353964

C

CCCGCCTGTCTACACCTTCCTCTTTCCATCCACCTGT

intronic

De novo

-

Yuen2017 G

TSNARE1

2-1408-004

chr8:
143342374-143342374

A

AAGAAGGGAAG

intronic

De novo

-

Yuen2017 G

TSNARE1

2-1341-004

chr8:
143432016-143432016

G

A

intronic

De novo

-

Yuen2017 G

TSNARE1

1-0158-003

chr8:
143513546-143513546

C

A

intergenic

De novo

-

Yuen2017 G

TSNARE1

2-0142-003

chr8:
143513595-143513595

T

TCCCCCGTAAC

intergenic

De novo

-

Yuen2017 G

TSNARE1

74-0115

chr8:
143516797-143516797

C

T

intergenic

De novo

-

Michaelson2012 G

TSNARE1

2-1485-003

chr8:
143513617-143513617

T

C

intergenic

De novo

-

Yuen2017 G

TSNARE1

1-0394-003

chr8:
143316703-143316703

G

A

intronic

De novo

-

Yuen2017 G

TSNARE1

1-0412-003

chr8:
143381164-143381164

G

A

intronic

De novo

-

Yuen2017 G

TSNARE1

2-1731-003

chr8:
143341025-143341025

A

C

intronic

De novo

-

Yuen2017 G

TSNARE1

AU4237302

chr8:
143341841-143341841

C

T

intronic

De novo

-

Yuen2017 G

TSNARE1

A20

chr8:
143412910-143412910

C

T

intronic

De novo

-

Wu2018 G

TSNARE1

AU007032

chr8:
143425442-143425442

G

A

exonic

De novo

synonymous SNV

NM_145003

c.C630T

p.S210S

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

TSNARE1

AU4284301

chr8:
143516350-143516385

CTCGCACACACATGCACTTTCACACACACATGCACT

CTCACACACACATGCACT

intergenic

De novo

-

Yuen2017 G

TSNARE1

1-0744-003

chr8:
143496539-143496539

G

A

intergenic

De novo

-

Yuen2017 G

TSNARE1

1-0756-005

chr8:
143513703-143513704

TC

T

intergenic

De novo

-

Yuen2017 G

TSNARE1

iHART3237

chr8:
143412308-143412308

G

A

exonic

Maternal

stopgain

NM_001291931
NM_145003

c.C190T
c.C847T

p.Q64X
p.Q283X

37.0

8.275E-6

Ruzzo2019 G

TSNARE1

iHART3242

chr8:
143412308-143412308

G

A

exonic

Maternal

stopgain

NM_001291931
NM_145003

c.C190T
c.C847T

p.Q64X
p.Q283X

37.0

8.275E-6

Ruzzo2019 G

TSNARE1

iHART3240

chr8:
143412308-143412308

G

A

exonic

Maternal

stopgain

NM_001291931
NM_145003

c.C190T
c.C847T

p.Q64X
p.Q283X

37.0

8.275E-6

Ruzzo2019 G

TSNARE1

13557.p1

chr8:
143356191-143356191

G

A

exonic

De novo

nonsynonymous SNV

NM_001291931
NM_145003

c.C740T
c.C1397T

p.S247L
p.S466L

9.587

-

Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G

TSNARE1

11411.p1

chr8:
143425725-143425725

G

C

exonic

De novo

nonsynonymous SNV

NM_145003

c.C347G

p.P116R

8.317

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

TSNARE1

1-0606-003

chr8:
143471531-143471531

G

A

intronic

De novo

-

Yuen2017 G

TSNARE1

1-0119-004

chr8:
143456964-143456964

G

A

intronic

De novo

-

Yuen2017 G

TSNARE1

iHART2245

chr8:
143425762-143425762

C

CCCCT

exonic

Paternal

frameshift insertion

NM_145003

c.309_310insAGGG

p.D104fs

-

Ruzzo2019 G

TSNARE1

iHART2244

chr8:
143425762-143425762

C

CCCCT

exonic

Paternal

frameshift insertion

NM_145003

c.309_310insAGGG

p.D104fs

-

Ruzzo2019 G

TSNARE1

2-1366-003

chr8:
143445238-143445238

C

T

intronic

De novo

-

Yuen2017 G

TSNARE1

2-1391-003

chr8:
143494773-143494773

A

AC

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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