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Results for "OSBPL3"

Variant Events: 13

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     DEASD_0074_001chr7:
24932001-24932001
GAexonicDe novostopgainNM_145320
NM_145321
NM_145322
NM_015550
c.C91T
c.C91T
c.C91T
c.C91T
p.R31X
p.R31X
p.R31X
p.R31X
38.02.487E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
OSBPL3     1-0126-004chr7:
24904382-24904382
TCintronicDe novo--Yuen2017 G
OSBPL3     7-0080-003chr7:
25087259-25087259
GCintergenicDe novo--Yuen2017 G
OSBPL3     1-0358-003chr7:
24859192-24859192
GAintronicDe novo--Yuen2017 G
OSBPL3     5-0026-003chr7:
24981479-24981479
GAintronicDe novo--Yuen2017 G
OSBPL3     AU4006302chr7:
24915817-24915817
GCintronicDe novo--Yuen2017 G
OSBPL3     AU3154301chr7:
25013312-25013312
CGintronicDe novo--Yuen2017 G
OSBPL3     1-0986-003chr7:
24903827-24903827
CTintronicDe novo--Yuen2017 G
OSBPL3     AU072004chr7:
25135812-25135812
CTintergenicDe novo--Yuen2017 G
OSBPL3     12568.p1chr7:
24925713-24925713
CAintronicDe novo--Turner2016 G
OSBPL3     AU3052302chr7:
24898024-24898024
TCintronicDe novo--Yuen2017 G
OSBPL3     TAS_F0134Ychr7:
24874200-24874200
CTexonicDe novononsynonymous SNVNM_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-Satterstrom2020 E
OSBPL3     13069.p1chr7:
24987732-24987732
CTintronicDe novo--Turner2016 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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