Variant Results

or

Results for "OXR1"

Variant Events: 40

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

OXR1

2-0289-003

chr8:
107259991-107259991

G

A

intergenic

De novo

-

Yuen2017 G

OXR1

5-0128-003

chr8:
107628958-107628958

T

A

intronic

De novo

-

Yuen2017 G

OXR1

9190755

chr8:
107710225-107710225

G

C

intronic

De novo

-

Fu2022 E

OXR1

AU3175302

chr8:
107151858-107151858

C

A

intergenic

De novo

-

Yuen2017 G

OXR1

AU3911301

chr8:
107390832-107390832

G

A

intronic

De novo

-

Yuen2017 G

OXR1

1-0629-003

chr8:
107752664-107752664

C

T

exonic

De novo

stopgain

NM_001198535
NM_001198534
NM_181354
NM_001198532
NM_018002
NM_001198533

c.C286T
c.C367T
c.C2155T
c.C2260T
c.C2176T
c.C2257T

p.R96X
p.R123X
p.R719X
p.R754X
p.R726X
p.R753X

40.0

8.246E-6

Yuen2017 G

OXR1

7-0273-003

chr8:
107595499-107595499

C

T

intronic

De novo

-

Yuen2017 G

OXR1

1-0286-004

chr8:
107370260-107370260

G

GTATC

intronic

De novo

-

Yuen2017 G

OXR1

11252.p1

chr8:
107163326-107163326

G

A

intergenic

De novo

-

Turner2016 G

OXR1

13964.p1

chr8:
107288820-107288820

A

G

intronic

De novo

-

Turner2016 G

OXR1

2-0045-003

chr8:
107540507-107540507

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

OXR1

1-0464-003

chr8:
107227038-107227038

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

OXR1

1-0564-003

chr8:
107443539-107443539

T

C

intronic

De novo

-

Yuen2017 G

OXR1

7-0077-003

chr8:
107401213-107401213

C

T

intronic

De novo

-

Yuen2017 G

OXR1

1-0065-005

chr8:
107729591-107729591

C

G

intronic

De novo

-

Yuen2017 G

OXR1

1-0565-004

chr8:
107350220-107350220

G

T

intronic

De novo

-

Yuen2017 G

OXR1

DEASD_0250_001

chr8:
107718722-107718722

A

C

exonic

De novo

nonsynonymous SNV

NM_181354
NM_001198532
NM_001198533
NM_018002

c.A952C
c.A976C
c.A973C
c.A973C

p.T318P
p.T326P
p.T325P
p.T325P

20.7

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

OXR1

1-0494-003

chr8:
107293027-107293027

G

C

intronic

De novo

-

Yuen2017 G

OXR1

AU1987301

chr8:
107306000-107306000

A

T

intronic

De novo

-

Yuen2017 G

OXR1

1-0559-004

chr8:
107720766-107720766

A

G

intronic

De novo

-

Yuen2017 G

OXR1

AU069603

chr8:
107441328-107441328

A

G

intronic

De novo

-

Yuen2017 G

OXR1

AU2988302

chr8:
107305181-107305181

G

A

intronic

De novo

-

Yuen2017 G

OXR1

1-0206-004

chr8:
107538877-107538877

T

TCCCCTGCCTCAGC

intronic

De novo

-

Yuen2017 G

OXR1

AU2951303

chr8:
107527849-107527849

T

G

intronic

De novo

-

Yuen2017 G

OXR1

1-0303-004

chr8:
107405725-107405725

C

A

intronic

De novo

-

Yuen2017 G

OXR1

5-0084-003

chr8:
107229669-107229669

A

G

intergenic

De novo

-

Yuen2017 G

OXR1

2-1137-003

chr8:
107658335-107658335

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

OXR1

AU2988303

chr8:
107305181-107305181

G

A

intronic

De novo

-

Yuen2017 G

OXR1

AU056204

chr8:
107600340-107600340

C

T

intronic

De novo

-

Yuen2017 G

OXR1

1-0745-003

chr8:
107291584-107291584

A

C

intronic

De novo

-

Yuen2017 G

OXR1

AU3912302

chr8:
107593457-107593457

C

A

intronic

De novo

-

Yuen2017 G

OXR1

7-0168-003

chr8:
107599755-107599757

CTT

CT

intronic

De novo

-

Yuen2017 G

OXR1

AU002903

chr8:
107133677-107133677

C

A

intergenic

De novo

-

Yuen2017 G

OXR1

A27

chr8:
107532060-107532060

G

T

intronic

De novo

-

Wu2018 G

OXR1

1-0494-003A

chr8:
107293027-107293027

G

C

intronic

De novo

-

Yuen2017 G

OXR1

2-1518-003

chr8:
107197478-107197478

G

A

intergenic

De novo

-

Yuen2017 G

OXR1

AU2951302

chr8:
107527849-107527849

T

G

intronic

De novo

-

Yuen2017 G

OXR1

1-0162-004

chr8:
107218059-107218059

T

C

intergenic

De novo

-

Yuen2017 G

OXR1

7-0103-003

chr8:
107754192-107754199

CTTAATTA

CTTA

intronic

De novo

-

Yuen2017 G

OXR1

7-0191-003

chr8:
107409722-107409722

T

C

intronic

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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