Variant Results

or

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 GE

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 GE

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 GE

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 GE

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

, -

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	View
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