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Results for "OSBPL1A"

Variant Events: 27

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     1-0006-004chr18:
21908229-21908229
TTTAGintronicDe novo--Yuen2017 G
OSBPL1A     2-0002-005chr18:
21853924-21853924
AGintronicDe novo--Yuen2017 G
OSBPL1A     PN400261chr18:
21752415-21752415
GAexonicUnknownnonsynonymous SNVNM_018030
NM_001242508
NM_080597
c.C587T
c.C980T
c.C2126T
p.T196I
p.T327I
p.T709I
16.070.0074Leblond2019 E
OSBPL1A     5-0106-003chr18:
21794827-21794827
TCintronicDe novo--Yuen2017 G
OSBPL1A     5-0106-003chr18:
21895012-21895012
CTintronicDe novo--Yuen2017 G
OSBPL1A     AU2950301chr18:
21939850-21939850
CTintronicDe novo--Yuen2017 G
OSBPL1A     11572.p1chr18:
21892856-21892856
CTintronicDe novo--Turner2016 G
OSBPL1A     PN400332chr18:
21752415-21752415
GAexonicUnknownnonsynonymous SNVNM_018030
NM_001242508
NM_080597
c.C587T
c.C980T
c.C2126T
p.T196I
p.T327I
p.T709I
16.070.0074Leblond2019 E
OSBPL1A     PN400246chr18:
21752415-21752415
GAexonicUnknownnonsynonymous SNVNM_018030
NM_001242508
NM_080597
c.C587T
c.C980T
c.C2126T
p.T196I
p.T327I
p.T709I
16.070.0074Leblond2019 E
OSBPL1A     11572.p1chr18:
21892851-21892851
GAintronicDe novo--Turner2016 G
OSBPL1A     1-0546-003chr18:
21837514-21837514
CTintronicDe novo--Yuen2017 G
OSBPL1A     PN400434chr18:
21752415-21752415
GAexonicUnknownnonsynonymous SNVNM_018030
NM_001242508
NM_080597
c.C587T
c.C980T
c.C2126T
p.T196I
p.T327I
p.T709I
16.070.0074Leblond2019 E
OSBPL1A     PN400484chr18:
21752415-21752415
GAexonicUnknownnonsynonymous SNVNM_018030
NM_001242508
NM_080597
c.C587T
c.C980T
c.C2126T
p.T196I
p.T327I
p.T709I
16.070.0074Leblond2019 E
OSBPL1A     2-1223-003chr18:
21810605-21810605
TCintronicDe novo--Yuen2017 G
OSBPL1A     11940.p1chr18:
21892060-21892060
TCexonicDe novononsynonymous SNVNM_080597c.A980Gp.E327G15.07-Satterstrom2020 E
OSBPL1A     NDAR_INVUH366DLU_wes1chr18:
21752335-21752335
CTintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
OSBPL1A     PN400350chr18:
21752415-21752415
GAexonicUnknownnonsynonymous SNVNM_018030
NM_001242508
NM_080597
c.C587T
c.C980T
c.C2126T
p.T196I
p.T327I
p.T709I
16.070.0074Leblond2019 E
OSBPL1A     1-0412-003chr18:
21902942-21902942
TAintronicDe novo--Yuen2017 G
OSBPL1A     2-0045-003chr18:
21875331-21875331
ACintronicDe novo--Yuen2016 G
Yuen2017 G
OSBPL1A     A27chr18:
21846098-21846098
GCintronicDe novo--Wu2018 G
OSBPL1A     PN400330chr18:
21752415-21752415
GAexonicUnknownnonsynonymous SNVNM_018030
NM_001242508
NM_080597
c.C587T
c.C980T
c.C2126T
p.T196I
p.T327I
p.T709I
16.070.0074Leblond2019 E
OSBPL1A     7-0175-003chr18:
21957387-21957387
AGexonicDe novosynonymous SNVNM_080597c.T111Cp.I37I-8.31E-6Yuen2017 G
OSBPL1A     1-0482-003chr18:
21812416-21812416
CTintronicDe novo--Yuen2016 G
Yuen2017 G
OSBPL1A     AU3912303chr18:
21773995-21773995
GCintronicDe novo--Yuen2017 G
OSBPL1A     AU017704chr18:
21761591-21761592
TCTintronicDe novo--Yuen2017 G
OSBPL1A     1-0559-004chr18:
21751885-21751885
GCintronicDe novo--Yuen2017 G
OSBPL1A     2-0208-003chr18:
21987210-21987210
CTintergenicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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