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Results for "CTNNB1"

Variant Events: 18

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
CTNNB1     ASC_CA_105_Achr3:
41268803-41268805
ATCAexonicDe novoframeshift deletionNM_001098209
NM_001098210
NM_001904
c.1042_1043del
c.1042_1043del
c.1042_1043del
p.S348fs
p.S348fs
p.S348fs
--Satterstrom2020 E
CTNNB1     SSC04950chr3:
41275346-41275346
GAexonicDe novostopgainNM_001098209
NM_001098210
NM_001904
c.G1512A
c.G1512A
c.G1512A
p.W504X
p.W504X
p.W504X
42.0-Lim2017 E
CTNNB1     12139.p1chr3:
41274877-41274877
GAexonicMosaicnonsynonymous SNVNM_001098209
NM_001098210
NM_001904
c.G1127A
c.G1127A
c.G1127A
p.R376H
p.R376H
p.R376H
32.0-Krupp2017 E
CTNNB1     03C18923chr3:
41268775-41268775
GCexonicUnknownnonsynonymous SNVNM_001098209
NM_001098210
NM_001904
c.G1013C
c.G1013C
c.G1013C
p.W338S
p.W338S
p.W338S
28.9-Stessman2017 T
Wang2020 T
Wang2020 T
CTNNB1     XD172chr3:
41277965-41277966
ACAexonicDe novoframeshift deletionNM_001098209
NM_001098210
NM_001904
c.1930delC
c.1930delC
c.1930delC
p.L644fs
p.L644fs
p.L644fs
--Satterstrom2020 E
CTNNB1     70chr3:
41275105-41275109
TTTCTTexonicDe novoframeshift deletionNM_001098209
NM_001098210
NM_001904
c.1272_1275del
c.1272_1275del
c.1272_1275del
p.L424fs
p.L424fs
p.L424fs
--O’Roak2014 T
CTNNB1     EGAN00001101374chr3:
41275627-41275627
CGintronicDe novo--Satterstrom2020 E
CTNNB1     12211.p1chr3:
41275346-41275346
GAexonicDe novostopgainNM_001098209
NM_001098210
NM_001904
c.G1512A
c.G1512A
c.G1512A
p.W504X
p.W504X
p.W504X
42.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
CTNNB1     12703.p1chr3:
41275757-41275757
CTexonicDe novononsynonymous SNVNM_001098209
NM_001098210
NM_001904
c.C1652T
c.C1652T
c.C1652T
p.T551M
p.T551M
p.T551M
15.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2012b E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
CTNNB1     13783.p1chr3:
41278105-41278105
CAexonicDe novosynonymous SNVNM_001098209
NM_001098210
NM_001904
c.C1981A
c.C1981A
c.C1981A
p.R661R
p.R661R
p.R661R
-1.648E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
CTNNB1     SF0093240.p1chr3:
41266630-41266631
CACexonicDe novoframeshift deletionNM_001098209
NM_001098210
NM_001904
c.428delA
c.428delA
c.428delA
p.Q143fs
p.Q143fs
p.Q143fs
--Wang2020 T
CTNNB1     Alvarez-Mora2016:ASD-33chr3:
41280742-41280742
GCexonicUnknownnonsynonymous SNVNM_001098209
NM_001098210
NM_001904
c.G2255C
c.G2255C
c.G2255C
p.G752A
p.G752A
p.G752A
13.81.652E-5Alvarez-Mora2016 T
CTNNB1     13026.p1chr3:
41275648-41275648
CTexonicMosaicstopgainNM_001098209
NM_001098210
NM_001904
c.C1543T
c.C1543T
c.C1543T
p.R515X
p.R515X
p.R515X
43.0-Dou2017 E
CTNNB1     GD0082.p1chr3:
41275254-41275254
CTexonicUnknownstopgainNM_001098209
NM_001098210
NM_001904
c.C1420T
c.C1420T
c.C1420T
p.R474X
p.R474X
p.R474X
40.0-Wang2020 T
Wang2020 T
CTNNB1     HEN0199.p1chr3:
41268844-41268844
GCsplicingUnknownsplicing22.2-Wang2020 T
Wang2020 T
CTNNB1     SD0381.p1chr3:
41277224-41277224
CTexonicUnknownnonsynonymous SNVNM_001098209
NM_001098210
NM_001904
c.C1693T
c.C1693T
c.C1693T
p.R565C
p.R565C
p.R565C
32.02.472E-5Wang2020 T
Wang2020 T
CTNNB1     ASDFI_1049chr3:
41275002-41275002
CTintronicDe novo--Satterstrom2020 E
CTNNB1     HN0215.p1chr3:
41278141-41278141
CTexonicUnknownnonsynonymous SNVNM_001098209
NM_001098210
NM_001904
c.C2017T
c.C2017T
c.C2017T
p.R673W
p.R673W
p.R673W
22.3-Wang2020 T
Wang2020 T
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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