Variant Results

or

Results for "OSBPL1A"

Variant Events: 29

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

OSBPL1A

1-0006-004

chr18:
21908229-21908229

T

TTAG

intronic

De novo

-

Yuen2017 G

OSBPL1A

2-0002-005

chr18:
21853924-21853924

A

G

intronic

De novo

-

Yuen2017 G

OSBPL1A

PN400261

chr18:
21752415-21752415

G

A

exonic

Unknown

nonsynonymous SNV

NM_018030
NM_001242508
NM_080597

c.C587T
c.C980T
c.C2126T

p.T196I
p.T327I
p.T709I

16.07

0.0074

Leblond2019 E

OSBPL1A

5-0106-003

chr18:
21794827-21794827

T

C

intronic

De novo

-

Yuen2017 G

OSBPL1A

5-0106-003

chr18:
21895012-21895012

C

T

intronic

De novo

-

Yuen2017 G

OSBPL1A

AU2950301

chr18:
21939850-21939850

C

T

intronic

De novo

-

Yuen2017 G

OSBPL1A

11572.p1

chr18:
21892856-21892856

C

T

intronic

De novo

-

Turner2016 G

OSBPL1A

PN400332

chr18:
21752415-21752415

G

A

exonic

Unknown

nonsynonymous SNV

NM_018030
NM_001242508
NM_080597

c.C587T
c.C980T
c.C2126T

p.T196I
p.T327I
p.T709I

16.07

0.0074

Leblond2019 E

OSBPL1A

PN400246

chr18:
21752415-21752415

G

A

exonic

Unknown

nonsynonymous SNV

NM_018030
NM_001242508
NM_080597

c.C587T
c.C980T
c.C2126T

p.T196I
p.T327I
p.T709I

16.07

0.0074

Leblond2019 E

OSBPL1A

11572.p1

chr18:
21892851-21892851

G

A

intronic

De novo

-

Turner2016 G

OSBPL1A

1-0546-003

chr18:
21837514-21837514

C

T

intronic

De novo

-

Yuen2017 G

OSBPL1A

PN400434

chr18:
21752415-21752415

G

A

exonic

Unknown

nonsynonymous SNV

NM_018030
NM_001242508
NM_080597

c.C587T
c.C980T
c.C2126T

p.T196I
p.T327I
p.T709I

16.07

0.0074

Leblond2019 E

OSBPL1A

PN400484

chr18:
21752415-21752415

G

A

exonic

Unknown

nonsynonymous SNV

NM_018030
NM_001242508
NM_080597

c.C587T
c.C980T
c.C2126T

p.T196I
p.T327I
p.T709I

16.07

0.0074

Leblond2019 E

OSBPL1A

2-1223-003

chr18:
21810605-21810605

T

C

intronic

De novo

-

Yuen2017 G

OSBPL1A

11940.p1

chr18:
21892060-21892060

T

C

exonic

De novo

nonsynonymous SNV

NM_080597

c.A980G

p.E327G

15.07

-

Satterstrom2020 E

OSBPL1A

NDAR_INVUH366DLU_wes1

chr18:
21752335-21752335

C

T

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

OSBPL1A

PN400350

chr18:
21752415-21752415

G

A

exonic

Unknown

nonsynonymous SNV

NM_018030
NM_001242508
NM_080597

c.C587T
c.C980T
c.C2126T

p.T196I
p.T327I
p.T709I

16.07

0.0074

Leblond2019 E

OSBPL1A

1-0412-003

chr18:
21902942-21902942

T

A

intronic

De novo

-

Yuen2017 G

OSBPL1A

2-0045-003

chr18:
21875331-21875331

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

OSBPL1A

A27

chr18:
21846098-21846098

G

C

intronic

De novo

-

Wu2018 G

OSBPL1A

B200703

chr18:
21746610-21746610

C

G

exonic

De novo

nonsynonymous SNV

NM_018030
NM_001242508
NM_080597

c.G1053C
c.G1446C
c.G2592C

p.E351D
p.E482D
p.E864D

11.53

-

Fu2022 E

OSBPL1A

PN400330

chr18:
21752415-21752415

G

A

exonic

Unknown

nonsynonymous SNV

NM_018030
NM_001242508
NM_080597

c.C587T
c.C980T
c.C2126T

p.T196I
p.T327I
p.T709I

16.07

0.0074

Leblond2019 E

OSBPL1A

7-0175-003

chr18:
21957387-21957387

A

G

exonic

De novo

synonymous SNV

NM_080597

c.T111C

p.I37I

-

8.31E-6

Yuen2017 G

OSBPL1A

1-0482-003

chr18:
21812416-21812416

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

OSBPL1A

AU3912303

chr18:
21773995-21773995

G

C

intronic

De novo

-

Yuen2017 G

OSBPL1A

AU017704

chr18:
21761591-21761592

TC

T

intronic

De novo

-

Yuen2017 G

OSBPL1A

1-0559-004

chr18:
21751885-21751885

G

C

intronic

De novo

-

Yuen2017 G

OSBPL1A

2-0208-003

chr18:
21987210-21987210

C

T

intergenic

De novo

-

Yuen2017 G

OSBPL1A

SP0023805

chr18:
21913111-21913111

T

G

intronic

De novo

-

Fu2022 E

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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