Variant Results

or

or

Results for "OSBPL3"

Variant Events: 25

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

OSBPL3

3-0354-000

chr7:
25017266-25017266

G

C

intronic

De novo

-

-

Trost2022 G

OSBPL3

MSSNG00125-003

chr7:
24927955-24927955

G

C

intronic

De novo

-

-

Trost2022 G

OSBPL3

MT_31.3

chr7:
24938199-24938199

G

A

intronic

De novo

-

-

Trost2022 G

OSBPL3

1-0358-003

chr7:
24859192-24859192

G

A

intronic

De novo

-

-

Yuen2017 G

OSBPL3

5-0026-003

chr7:
24981479-24981479

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

OSBPL3

Wang2023:65

chr7:
24911365-24911365

G

A

exonic

De novo

nonsynonymous SNV

NM_145320
NM_145321
NM_145322
NM_015550

c.C263T
c.C263T
c.C263T
c.C263T

p.T88I
p.T88I
p.T88I
p.T88I

1.425

-

Wang2023 E

OSBPL3

AU3154301

chr7:
25013312-25013312

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

OSBPL3

1-0986-003

chr7:
24903827-24903827

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

OSBPL3

AU072004

chr7:
25135812-25135812

C

T

intergenic

De novo

-

-

Yuen2017 G

OSBPL3

12568.p1

chr7:
24925713-24925713

C

A

intronic

De novo

-

-

Turner2016 G

OSBPL3

TAS_F0134Y

chr7:
24874200-24874200

C

T

exonic

De novo

nonsynonymous SNV

NM_145322
NM_145320
NM_145321
NM_015550

c.G1450A
c.G1558A
c.G1543A
c.G1651A

p.E484K
p.E520K
p.E515K
p.E551K

36.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

OSBPL3

13069.p1

chr7:
24987732-24987732

C

T

intronic

De novo

-

-

Turner2016 G

OSBPL3

DEASD_0074_001

chr7:
24932001-24932001

G

A

exonic

De novo

stopgain

NM_145320
NM_145321
NM_145322
NM_015550

c.C91T
c.C91T
c.C91T
c.C91T

p.R31X
p.R31X
p.R31X
p.R31X

38.0

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

OSBPL3

1-0126-004

chr7:
24904382-24904382

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

OSBPL3

7-0080-003

chr7:
25087259-25087259

G

C

intergenic

De novo

-

-

Yuen2017 G

OSBPL3

AU4006302

chr7:
24915817-24915817

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

OSBPL3

1-1159-003

chr7:
24924694-24924694

T

A

intronic

De novo

-

-

Trost2022 G

OSBPL3

MSSNG00367-004

chr7:
24926571-24926571

G

T

intronic

De novo

-

-

Trost2022 G

OSBPL3

REACH000173

chr7:
24919929-24919929

G

A

intronic

De novo

-

-

Trost2022 G

OSBPL3

2-1341-003

chr7:
24921171-24921171

C

A

intronic

De novo

-

-

Trost2022 G

OSBPL3

4-0073-003

chr7:
24904463-24904464

GT

TC

intronic

De novo

-

-

Trost2022 G

OSBPL3

REACH000198

chr7:
24908833-24908833

A

G

intronic

De novo

-

-

Trost2022 G

OSBPL3

AU3052302

chr7:
24898024-24898024

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

OSBPL3

5-5101-003

chr7:
24858143-24858143

A

C

intronic

De novo

-

-

Trost2022 G

OSBPL3

AU004403

chr7:
24890957-24890957

T

G

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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