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Results for "TRIM23"

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
TRIM23     3-0294-000chr5:
64892877-64892877
CTsplicingDe novosplicing31.0-Tammimies2015 E
TRIM23     iHART2630chr5:
64905069-64905069
CTsplicingMaternalsplicing19.76-Ruzzo2019 G
TRIM23     AU3517302chr5:
64900745-64900745
AGexonicDe novononsynonymous SNVNM_001656
NM_033227
NM_033228
c.T1172C
c.T1172C
c.T1172C
p.F391S
p.F391S
p.F391S
26.4-Satterstrom2020 E
Yuen2017 G
TRIM23     12867.p1chr5:
64892348-64892348
CTexonicDe novosynonymous SNVNM_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
TRIM23     08C79054chr5:
64887621-64887621
GAexonicDe novononsynonymous SNVNM_001656c.C1700Tp.A567V19.27-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
TRIM23     SSC06111chr5:
64892348-64892348
CTexonicDe novosynonymous SNVNM_001656
NM_033227
NM_033228
c.G1320A
c.G1320A
c.G1320A
p.V440V
p.V440V
p.V440V
--Lim2017 E
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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