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Results for "OSBPL9"

Variant Events: 6

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     2-1514-003chr1:
52231955-52231955
CGintronicDe novo--Yuen2017 G
OSBPL9     2-1166-003chr1:
52137846-52137846
CTintronicDe novo--Yuen2016 G
Yuen2017 G
OSBPL9     1-0051-004chr1:
52229263-52229263
CTintronicDe novo--Yuen2017 G
OSBPL9     AU047904chr1:
52121665-52121665
GCintronicDe novo--Yuen2017 G
OSBPL9     DEASD_0084_001chr1:
52253139-52253139
GCexonicDe novononsynonymous SNVNM_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
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
OSBPL9     1-0436-003chr1:
52107514-52107514
AGintronicDe 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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