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Results for "CDH9"
Variant Events: 31
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
CDH9
AU2000305
chr5:
26989870-26989870
A
C
intronic
De novo
-
-
Yuen2017
G
CDH9
2-1629-003
chr5:
27101880-27101884
CAGAG
CAG
intergenic
De novo
-
-
Yuen2017
G
CDH9
2-1741-003
chr5:
27092913-27092913
C
T
intergenic
De novo
-
-
Yuen2017
G
CDH9
5-0140-003
chr5:
27015305-27015306
AC
A
intronic
De novo
-
-
Yuen2017
G
CDH9
AU4237301
chr5:
27087983-27087983
T
G
intergenic
De novo
-
-
Yuen2017
G
CDH9
5-0004-003
chr5:
26893234-26893239
TTAATC
T
intronic
De novo
-
-
Yuen2017
G
CDH9
AU065807
chr5:
26908768-26908768
G
T
intronic
De novo
-
-
Yuen2017
G
CDH9
3-0434-000
chr5:
27276400-27276400
T
C
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CDH9
1-0253-005
chr5:
27251032-27251035
AGGT
A
intergenic
De novo
-
-
Yuen2017
G
CDH9
1-0489-003
chr5:
27240379-27240379
A
G
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CDH9
2-1719-003
chr5:
27134798-27134798
G
T
intergenic
De novo
-
-
Yuen2017
G
CDH9
2-1235-004
chr5:
27237549-27237549
T
C
intergenic
De novo
-
-
Yuen2017
G
CDH9
2-0503-003
chr5:
27073332-27073332
G
A
intergenic
De novo
-
-
Yuen2017
G
CDH9
2-1735-003
chr5:
26946171-26946171
T
A
intronic
De novo
-
-
Yuen2017
G
CDH9
1-0113-003
chr5:
26900853-26900853
T
G
intronic
De novo
-
-
Yuen2016
G
CDH9
AU2162302
chr5:
27175435-27175435
C
T
intergenic
De novo
-
-
Yuen2017
G
CDH9
2-0300-004
chr5:
27069467-27069467
C
T
intergenic
De novo
-
-
Yuen2017
G
CDH9
14642.p1
chr5:
26884240-26884240
T
C
intronic
De novo
-
-
Turner2016
G
CDH9
AU2495302
chr5:
26896649-26896649
C
A
intronic
De novo
-
-
Yuen2017
G
CDH9
1-1004-003
chr5:
27322840-27322840
A
G
intergenic
De novo
-
-
Yuen2017
G
CDH9
AU1223303
chr5:
27258004-27258004
T
C
intergenic
De novo
-
-
Yuen2017
G
CDH9
1-0325-003
chr5:
27212028-27212028
G
T
intergenic
De novo
-
-
Yuen2017
G
CDH9
5-0055-004
chr5:
26934107-26934107
A
T
intronic
De novo
-
-
Yuen2017
G
CDH9
1-0007-003
chr5:
27426673-27426673
G
A
intergenic
De novo
-
-
Yuen2017
G
CDH9
Cukier2014:17351
chr5:
26885797-26885797
T
C
exonic
Unknown
nonsynonymous SNV
NM_016279
c.A1808G
p.E603G
20.2
0.0069
Cukier2014
E
CDH9
AU4159302
chr5:
26909163-26909163
C
T
intronic
De novo
-
-
Yuen2017
G
CDH9
5-0074-003
chr5:
27204981-27204981
C
T
intergenic
De novo
-
-
Yuen2017
G
CDH9
2-0503-004
chr5:
27073332-27073332
G
A
intergenic
De novo
-
-
Yuen2017
G
CDH9
2-0102-004
chr5:
27038862-27038862
G
A
upstream
De novo
-
-
Yuen2017
G
CDH9
5-0114-003
chr5:
27291288-27291288
T
C
intergenic
De novo
-
-
Yuen2017
G
CDH9
AU3937301
chr5:
27439224-27439224
C
T
intergenic
De novo
-
-
Yuen2017
G
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 notes
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