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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:

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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.
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