Variant Results

or

Results for "TSHZ3"

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

TSHZ3

2-1112-003

chr19:
31922021-31922021

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TSHZ3

AU2108302

chr19:
31998420-31998420

T

C

intergenic

De novo

-

Yuen2017 G

TSHZ3

AU2950301

chr19:
31993100-31993100

C

A

intergenic

De novo

-

Yuen2017 G

TSHZ3

1-0158-012

chr19:
32050776-32050776

C

T

intergenic

De novo

-

Yuen2017 G

TSHZ3

AU3787303

chr19:
31932351-31932351

T

C

intergenic

De novo

-

Yuen2017 G

TSHZ3

7-0167-003

chr19:
31963155-31963155

G

A

intergenic

De novo

-

Yuen2017 G

TSHZ3

1-0120-003

chr19:
31916465-31916465

G

A

intergenic

De novo

-

Yuen2017 G

TSHZ3

Ishay2021:36

chr19:
31769293-31769293

T

C

exonic

Inherited

nonsynonymous SNV

NM_020856

c.A1406G

p.E469G

18.15

0.0081

Ishay2021 E

TSHZ3

5-5015-003

chr19:
31770449-31770449

G

A

exonic

De novo

stopgain

NM_020856

c.C250T

p.R84X

37.0

-

Trost2022 G
Zhou2022 GE

TSHZ3

2-1267-003

chr19:
31888316-31888316

C

A

intergenic

De novo

-

Yuen2017 G

TSHZ3

1-1217-003

chr19:
31769411-31769411

C

T

exonic

De novo

nonsynonymous SNV

NM_020856

c.G1288A

p.V430I

4.813

-

Trost2022 G
Zhou2022 GE

TSHZ3

1-0566-003

chr19:
32063407-32063407

C

T

intergenic

De novo

-

Yuen2017 G

TSHZ3

2-0704-003

chr19:
31856802-31856802

G

A

intergenic

De novo

-

Yuen2016 G

TSHZ3

AU4242302

chr19:
31993794-31993794

C

G

intergenic

De novo

-

Yuen2017 G

TSHZ3

08C72692

chr19:
31840055-31840055

G

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

TSHZ3

1-0512-003

chr19:
31768038-31768038

G

A

exonic

De novo

synonymous SNV

NM_020856

c.C2661T

p.P887P

-

1.0E-4

Trost2022 G
Yuen2017 G
Zhou2022 GE

TSHZ3

2-0098-003

chr19:
31873811-31873825

CTGTGTGTGTGTGTG

CTGTGTGTGTGTG

intergenic

De novo

-

Yuen2017 G

TSHZ3

1-1130-003

chr19:
31790925-31790925

G

C

intronic

De novo

-

Trost2022 G

TSHZ3

1-0186-005

chr19:
31894277-31894277

T

C

intergenic

De novo

-

Yuen2017 G

TSHZ3

REACH000359

chr19:
31797573-31797578

TATAAC

T

intronic

De novo

-

Trost2022 G

TSHZ3

1-1111-003

chr19:
31783902-31783902

T

C

intronic

De novo

-

Trost2022 G

TSHZ3

1-0562-004

chr19:
31785905-31785909

ACATT

A

intronic

De novo

-

Trost2022 G

TSHZ3

1-0144-005

chr19:
31970862-31970862

C

A

intergenic

De novo

-

Yuen2017 G

TSHZ3

SP0138024

chr19:
31769001-31769001

C

T

exonic

De novo

synonymous SNV

NM_020856

c.G1698A

p.S566S

-

0.0011

Trost2022 G

TSHZ3

1-0971-003

chr19:
31927406-31927406

G

A

intergenic

De novo

-

Yuen2017 G

TSHZ3

AU4033303

chr19:
31874461-31874461

G

A

intergenic

De novo

-

Yuen2017 G

TSHZ3

2-1277-004

chr19:
31807235-31807235

C

CTTGTATGCA

intronic

De novo

-

Trost2022 G
Yuen2017 G

TSHZ3

REACH000349

chr19:
31806609-31806609

A

C

intronic

De novo

-

Trost2022 G

TSHZ3

AU3808304

chr19:
32029640-32029640

G

A

intergenic

De novo

-

Yuen2017 G

TSHZ3

MSSNG00437-004

chr19:
31825553-31825553

T

C

intronic

De novo

-

Trost2022 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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