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Results for "OXR1"

Variant Events: 39

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
OXR1     2-0289-003chr8:
107259991-107259991
GAintergenicDe novo--Yuen2017 G
OXR1     5-0128-003chr8:
107628958-107628958
TAintronicDe novo--Yuen2017 G
OXR1     AU3175302chr8:
107151858-107151858
CAintergenicDe novo--Yuen2017 G
OXR1     AU3911301chr8:
107390832-107390832
GAintronicDe novo--Yuen2017 G
OXR1     1-0629-003chr8:
107752664-107752664
CTexonicDe novostopgainNM_001198535
NM_001198534
NM_181354
NM_001198532
NM_018002
NM_001198533
c.C286T
c.C367T
c.C2155T
c.C2260T
c.C2176T
c.C2257T
p.R96X
p.R123X
p.R719X
p.R754X
p.R726X
p.R753X
40.08.246E-6Yuen2017 G
OXR1     7-0273-003chr8:
107595499-107595499
CTintronicDe novo--Yuen2017 G
OXR1     1-0286-004chr8:
107370260-107370260
GGTATCintronicDe novo--Yuen2017 G
OXR1     11252.p1chr8:
107163326-107163326
GAintergenicDe novo--Turner2016 G
OXR1     13964.p1chr8:
107288820-107288820
AGintronicDe novo--Turner2016 G
OXR1     2-0045-003chr8:
107540507-107540507
CTintronicDe novo--Yuen2016 G
Yuen2017 G
OXR1     1-0464-003chr8:
107227038-107227038
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
OXR1     1-0564-003chr8:
107443539-107443539
TCintronicDe novo--Yuen2017 G
OXR1     7-0077-003chr8:
107401213-107401213
CTintronicDe novo--Yuen2017 G
OXR1     1-0065-005chr8:
107729591-107729591
CGintronicDe novo--Yuen2017 G
OXR1     1-0565-004chr8:
107350220-107350220
GTintronicDe novo--Yuen2017 G
OXR1     DEASD_0250_001chr8:
107718722-107718722
ACexonicDe novononsynonymous SNVNM_181354
NM_001198532
NM_001198533
NM_018002
c.A952C
c.A976C
c.A973C
c.A973C
p.T318P
p.T326P
p.T325P
p.T325P
20.7-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
OXR1     1-0494-003chr8:
107293027-107293027
GCintronicDe novo--Yuen2017 G
OXR1     AU1987301chr8:
107306000-107306000
ATintronicDe novo--Yuen2017 G
OXR1     1-0559-004chr8:
107720766-107720766
AGintronicDe novo--Yuen2017 G
OXR1     AU069603chr8:
107441328-107441328
AGintronicDe novo--Yuen2017 G
OXR1     AU2988302chr8:
107305181-107305181
GAintronicDe novo--Yuen2017 G
OXR1     1-0206-004chr8:
107538877-107538877
TTCCCCTGCCTCAGCintronicDe novo--Yuen2017 G
OXR1     AU2951303chr8:
107527849-107527849
TGintronicDe novo--Yuen2017 G
OXR1     1-0303-004chr8:
107405725-107405725
CAintronicDe novo--Yuen2017 G
OXR1     5-0084-003chr8:
107229669-107229669
AGintergenicDe novo--Yuen2017 G
OXR1     2-1137-003chr8:
107658335-107658335
TCintronicDe novo--Yuen2016 G
Yuen2017 G
OXR1     AU2988303chr8:
107305181-107305181
GAintronicDe novo--Yuen2017 G
OXR1     AU056204chr8:
107600340-107600340
CTintronicDe novo--Yuen2017 G
OXR1     1-0745-003chr8:
107291584-107291584
ACintronicDe novo--Yuen2017 G
OXR1     AU3912302chr8:
107593457-107593457
CAintronicDe novo--Yuen2017 G
OXR1     7-0168-003chr8:
107599755-107599757
CTTCTintronicDe novo--Yuen2017 G
OXR1     AU002903chr8:
107133677-107133677
CAintergenicDe novo--Yuen2017 G
OXR1     A27chr8:
107532060-107532060
GTintronicDe novo--Wu2018 G
OXR1     1-0494-003Achr8:
107293027-107293027
GCintronicDe novo--Yuen2017 G
OXR1     2-1518-003chr8:
107197478-107197478
GAintergenicDe novo--Yuen2017 G
OXR1     AU2951302chr8:
107527849-107527849
TGintronicDe novo--Yuen2017 G
OXR1     1-0162-004chr8:
107218059-107218059
TCintergenicDe novo--Yuen2017 G
OXR1     7-0103-003chr8:
107754192-107754199
CTTAATTACTTAintronicDe novo--Yuen2017 G
OXR1     7-0191-003chr8:
107409722-107409722
TCintronicDe 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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