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Results for "CTNND1"

Variant Events: 4

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
CTNND1     SP0060331chr11:
57569278-57569278
CTexonicDe novostopgainNM_001085469
NM_001085463
NM_001085464
NM_001085465
NM_001085466
NM_001085467
NM_001085468
NM_001206890
NM_001085462
NM_001206883
NM_001206884
NM_001206886
NM_001206887
NM_001206888
NM_001085458
NM_001085459
NM_001085460
NM_001085461
NM_001206885
NM_001206889
NM_001206891
NM_001331
c.C727T
c.C727T
c.C727T
c.C727T
c.C727T
c.C727T
c.C727T
c.C727T
c.C1030T
c.C868T
c.C868T
c.C868T
c.C868T
c.C868T
c.C1030T
c.C1030T
c.C1030T
c.C1030T
c.C1030T
c.C868T
c.C868T
c.C1030T
p.R243X
p.R243X
p.R243X
p.R243X
p.R243X
p.R243X
p.R243X
p.R243X
p.R344X
p.R290X
p.R290X
p.R290X
p.R290X
p.R290X
p.R344X
p.R344X
p.R344X
p.R344X
p.R344X
p.R290X
p.R290X
p.R344X
17.83-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
CTNND1     PN400507chr11:
57575943-57575943
CTexonicUnknownnonsynonymous SNVNM_001085469
NM_001085464
NM_001085465
NM_001085467
NM_001085468
NM_001206890
NM_001085462
NM_001085463
NM_001085466
NM_001206886
NM_001206887
NM_001206888
NM_001085459
NM_001085460
NM_001085461
NM_001206883
NM_001206884
NM_001206889
NM_001206891
NM_001331
NM_001085458
NM_001206885
c.C1852T
c.C1852T
c.C1852T
c.C1852T
c.C1852T
c.C1852T
c.C2155T
c.C1870T
c.C1870T
c.C1993T
c.C1993T
c.C1993T
c.C2155T
c.C2155T
c.C2155T
c.C2011T
c.C2011T
c.C1993T
c.C1993T
c.C2155T
c.C2173T
c.C2173T
p.R618W
p.R618W
p.R618W
p.R618W
p.R618W
p.R618W
p.R719W
p.R624W
p.R624W
p.R665W
p.R665W
p.R665W
p.R719W
p.R719W
p.R719W
p.R671W
p.R671W
p.R665W
p.R665W
p.R719W
p.R725W
p.R725W
27.27.0E-4Leblond2019 E
CTNND1     PN400284chr11:
57575943-57575943
CTexonicUnknownnonsynonymous SNVNM_001085469
NM_001085464
NM_001085465
NM_001085467
NM_001085468
NM_001206890
NM_001085462
NM_001085463
NM_001085466
NM_001206886
NM_001206887
NM_001206888
NM_001085459
NM_001085460
NM_001085461
NM_001206883
NM_001206884
NM_001206889
NM_001206891
NM_001331
NM_001085458
NM_001206885
c.C1852T
c.C1852T
c.C1852T
c.C1852T
c.C1852T
c.C1852T
c.C2155T
c.C1870T
c.C1870T
c.C1993T
c.C1993T
c.C1993T
c.C2155T
c.C2155T
c.C2155T
c.C2011T
c.C2011T
c.C1993T
c.C1993T
c.C2155T
c.C2173T
c.C2173T
p.R618W
p.R618W
p.R618W
p.R618W
p.R618W
p.R618W
p.R719W
p.R624W
p.R624W
p.R665W
p.R665W
p.R665W
p.R719W
p.R719W
p.R719W
p.R671W
p.R671W
p.R665W
p.R665W
p.R719W
p.R725W
p.R725W
27.27.0E-4Leblond2019 E
CTNND1     PN400249chr11:
57561488-57561488
CTexonicUnknownnonsynonymous SNVNM_001085462
NM_001206883
NM_001206884
NM_001206886
NM_001206887
NM_001206888
NM_001085458
NM_001085459
NM_001085460
NM_001085461
NM_001206885
NM_001206889
NM_001206891
NM_001331
c.C202T
c.C40T
c.C40T
c.C40T
c.C40T
c.C40T
c.C202T
c.C202T
c.C202T
c.C202T
c.C202T
c.C40T
c.C40T
c.C202T
p.R68W
p.R14W
p.R14W
p.R14W
p.R14W
p.R14W
p.R68W
p.R68W
p.R68W
p.R68W
p.R68W
p.R14W
p.R14W
p.R68W
29.44.0E-4Leblond2019 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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