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Results for "CDH11"

Variant Events: 10

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
CDH11     2-0149-003chr16:
65159715-65159715
TCintergenicDe novo--Yuen2017 G
CDH11     AU2123302chr16:
65153423-65153425
CTTCTintronicDe novo--Yuen2017 G
CDH11     2-0012-004chr16:
65170206-65170206
CTintergenicDe novo--Yuen2017 G
CDH11     AU2569301chr16:
65042803-65042803
TGintronicDe novo--Yuen2017 G
CDH11     AU4219302chr16:
65084234-65084234
AGintronicDe novo--Yuen2017 G
CDH11     1-0226-005chr16:
65013526-65013526
GGAAAGAAAGTAintronicDe novo--Yuen2017 G
CDH11     Cukier2014:17122chr16:
65016165-65016165
CGexonicUnknownnonsynonymous SNVNM_001308392
NM_001797
c.G1039C
c.G1039C
p.V347L
p.V347L
20.80.0192Cukier2014 E
CDH11     2-1335-003chr16:
65142241-65142241
GTintronicDe novo--Yuen2017 G
CDH11     AU012803chr16:
64977904-64977904
TCUTR3De novo--Yuen2017 G
CDH11     AU138Achr16:
65006894-65006894
GAexonicDe novononsynonymous SNVNM_001308392
NM_001797
c.C1303T
c.C1303T
p.P435S
p.P435S
5.455-Satterstrom2020 E
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.
Variant event count
Curation notesView
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