Variant Results

or

Results for "OSBPL9"

Variant Events: 21

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

OSBPL9

SP0214031

chr1:
52082682-52082682

G

C

UTR5

De novo

-

Trost2022 G

OSBPL9

SP0021369

chr1:
52082682-52082682

G

C

UTR5

De novo

-

Trost2022 G

OSBPL9

2-1166-003

chr1:
52137846-52137846

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

OSBPL9

1-0051-004

chr1:
52229263-52229263

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

OSBPL9

MSSNG00439-004

chr1:
52155898-52155898

C

A

intronic

De novo

-

Trost2022 G

OSBPL9

MSSNG00400-003

chr1:
52137241-52137241

A

C

intronic

De novo

-

Trost2022 G

OSBPL9

AU4394302

chr1:
52173920-52173921

CT

C

intronic

De novo

-

Trost2022 G

OSBPL9

10-0001-003

chr1:
52170392-52170392

C

T

intronic

De novo

-

Trost2022 G

OSBPL9

3-0019-000

chr1:
52095333-52095333

T

A

intronic

De novo

-

Trost2022 G

OSBPL9

SP0137016

chr1:
52082687-52082687

G

C

UTR5

De novo

-

Trost2022 G

OSBPL9

3-0380-002

chr1:
52128562-52128562

G

A

intronic

De novo

-

Trost2022 G

OSBPL9

1-0436-003

chr1:
52107514-52107514

A

G

intronic

De novo

-

Yuen2017 G

OSBPL9

1-1138-003

chr1:
52107456-52107456

G

T

intronic

De novo

-

Trost2022 G

OSBPL9

GEA489

chr1:
52211291-52211291

T

C

exonic

De novo

synonymous SNV

NM_148907
NM_148906
NM_024586
NM_148908
NM_148909

c.T111C
c.T351C
c.T402C
c.T402C
c.T471C

p.I37I
p.I117I
p.I134I
p.I134I
p.I157I

-

Fu2022 E

OSBPL9

2-1514-003

chr1:
52231955-52231955

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

OSBPL9

3-0025-000

chr1:
52200859-52200859

C

T

intronic

De novo

-

Trost2022 G

OSBPL9

MSSNG00424-004

chr1:
52191920-52191921

GT

G

intronic

De novo

-

Trost2022 G

OSBPL9

AU2221301

chr1:
52218423-52218423

G

A

intronic

De novo

-

Trost2022 G

OSBPL9

5-5217-003

chr1:
52214751-52214751

G

T

intronic

De novo

-

Trost2022 G

OSBPL9

AU047904

chr1:
52121665-52121665

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

OSBPL9

DEASD_0084_001

chr1:
52253139-52253139

G

C

exonic

De novo

nonsynonymous SNV

NM_148905
NM_148904
NM_148907
NM_148906
NM_148908
NM_024586
NM_148909

c.G1581C
c.G1581C
c.G1785C
c.G2064C
c.G2076C
c.G2115C
c.G2145C

p.K527N
p.K527N
p.K595N
p.K688N
p.K692N
p.K705N
p.K715N

8.374

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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