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Results for "TRIM23"
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
TRIM23
AU3517302
chr5:
64900745-64900745
A
G
exonic
De novo
nonsynonymous SNV
NM_001656
NM_033227
NM_033228
c.T1172C
c.T1172C
c.T1172C
p.F391S
p.F391S
p.F391S
26.4
-
Fu2022
E
Satterstrom2020
E
Yuen2017
G
Zhou2022
G
E
TRIM23
SP0200020
chr5:
64887277-64887277
T
C
exonic
De novo
synonymous SNV
NM_033227
c.A1704G
p.K568K
-
-
Trost2022
G
TRIM23
3-0294-000
chr5:
64892877-64892877
C
T
splicing
De novo
splicing
31.0
-
Tammimies2015
E
Trost2022
G
Zhou2022
G
E
TRIM23
SP0198225
chr5:
64887676-64887676
G
C
exonic
De novo
nonsynonymous SNV
NM_001656
NM_033227
c.C1645G
c.C1645G
p.R549G
p.R549G
11.58
-
Trost2022
G
TRIM23
iHART2630
chr5:
64905069-64905069
C
T
splicing
Maternal
splicing
19.76
-
Ruzzo2019
G
TRIM23
SP0085211
chr5:
64909714-64909714
C
T
intronic
De novo
-
-
Fu2022
E
TRIM23
mAGRE2630
chr5:
64905069-64905069
C
T
splicing
Maternal
splicing
19.76
-
Cirnigliaro2023
G
TRIM23
SP0040058
chr5:
64886652-64886652
T
C
UTR3
De novo
-
-
Fu2022
E
Trost2022
G
TRIM23
12867.p1
chr5:
64892348-64892348
C
T
exonic
De novo
synonymous SNV
NM_001656
NM_033227
NM_033228
c.G1320A
c.G1320A
c.G1320A
p.V440V
p.V440V
p.V440V
-
-
Iossifov2012
E
Iossifov2014
E
Kosmicki2017
E
Krupp2017
E
Satterstrom2020
E
Zhou2022
G
E
TRIM23
08C79054
chr5:
64887621-64887621
G
A
exonic
De novo
nonsynonymous SNV
NM_001656
c.C1700T
p.A567V
19.27
-
DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Lim2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
TRIM23
MT_74.3
chr5:
64892429-64892430
AC
A
intronic
De novo
-
-
Trost2022
G
TRIM23
SSC06111
chr5:
64892348-64892348
C
T
exonic
De novo
synonymous SNV
NM_001656
NM_033227
NM_033228
c.G1320A
c.G1320A
c.G1320A
p.V440V
p.V440V
p.V440V
-
-
Fu2022
E
Lim2017
E
Trost2022
G
TRIM23
SP0117843
chr5:
64906837-64906837
G
A
exonic
De novo
stopgain
NM_001656
NM_033227
NM_033228
c.C679T
c.C679T
c.C679T
p.R227X
p.R227X
p.R227X
36.0
-
Trost2022
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 notes
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