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Results for "OBSL1"

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
OBSL1     1717_14mrchr2:
220420806-220420806
GTexonicDe novosynonymous SNVNM_001173431
NM_015311
c.C4545A
c.C4545A
p.A1515A
p.A1515A
1.427-Satterstrom2020 E
OBSL1     10C101480chr2:
220422963-220422963
CTexonicDe novononsynonymous SNVNM_001173431
NM_015311
c.G3445A
c.G3445A
p.G1149R
p.G1149R
20.99.307E-5DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
OBSL1     iHART1553chr2:
220434913-220434948
CCCCTCCCTAGGTCCCGGGCTCCGCCGTACCTTTCACexonicPaternalnonframeshift deletionNM_001173408
NM_001173431
NM_015311
c.1007_1012del
c.1007_1012del
c.1007_1012del
p.336_338del
p.336_338del
p.336_338del
--Ruzzo2019 G
OBSL1     1-0436-003chr2:
220433944-220433944
ATintronicDe novo--Yuen2016 G
Yuen2017 G
OBSL1     2-1176-003chr2:
220429341-220429341
GAintronicDe novo--Yuen2017 G
OBSL1     EGAN00001101277chr2:
220435278-220435278
ACexonicDe novononsynonymous SNVNM_001173408
NM_001173431
NM_015311
c.T677G
c.T677G
c.T677G
p.V226G
p.V226G
p.V226G
21.43.331E-5Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

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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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