Variant Results

or

or

Results for "TYW3"

Variant Events: 22

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

TYW3

2-1207-003

chr1:
75399206-75399206

G

A

intergenic

De novo

-

-

Yuen2016 G

TYW3

A5

chr1:
75462332-75462332

A

G

intergenic

De novo

-

-

Wu2018 G

TYW3

AU3859301

chr1:
75447921-75447921

G

A

intergenic

De novo

-

-

Yuen2017 G

TYW3

1-0469-003

chr1:
75529849-75529849

C

T

intergenic

De novo

-

-

Yuen2017 G

TYW3

2-1297-004

chr1:
75461627-75461627

G

A

intergenic

De novo

-

-

Yuen2017 G

TYW3

AU066818

chr1:
75575298-75575298

A

T

intergenic

De novo

-

-

Yuen2017 G

TYW3

1-0024-003

chr1:
75417474-75417474

T

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

TYW3

2-1174-005B

chr1:
75591390-75591391

AC

A

intergenic

De novo

-

-

Yuen2017 G

TYW3

2-1336-004

chr1:
75388473-75388473

C

T

intergenic

De novo

-

-

Yuen2017 G

TYW3

1-0271-003

chr1:
75368603-75368603

T

G

intergenic

De novo

-

-

Yuen2017 G

TYW3

AU3918301

chr1:
75553025-75553025

A

G

intergenic

De novo

-

-

Yuen2017 G

TYW3

Codina-Sola2015:ASD_5

chr1:
75229705-75229705

C

T

exonic

Maternal

stopgain

NM_001162916
NM_138467

c.C589T
c.C688T

p.Q197X
p.Q230X

12.8

Codina-Sola2015 E

TYW3

2-1375-003

chr1:
75566103-75566103

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

TYW3

AU2100302

chr1:
75414844-75414844

T

C

intergenic

De novo

-

-

Yuen2017 G

TYW3

AU3517302

chr1:
75445691-75445691

G

A

intergenic

De novo

-

-

Yuen2017 G

TYW3

AU045514

chr1:
75453603-75453603

G

T

intergenic

De novo

-

-

Yuen2017 G

TYW3

2-1561-003

chr1:
75336923-75336923

T

A

intergenic

De novo

-

-

Yuen2017 G

TYW3

2-1341-003

chr1:
75221697-75221697

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TYW3

AU012803

chr1:
75372324-75372324

G

A

intergenic

De novo

-

-

Yuen2017 G

TYW3

1-0508-003

chr1:
75501924-75501924

A

G

intergenic

De novo

-

-

Yuen2017 G

TYW3

AU3716301

chr1:
75224067-75224067

C

T

intronic

De novo

-

-

Yuen2017 G

TYW3

1-0508-003

chr1:
75401812-75401831

AATTATTATTATTATTATTA

AATTATTATTATTATTA

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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