cadherin 3, type 1, P-cadherin (placental) [Source:HGNC Symbol;Acc:1762]
16
68670092
68756519
1
q22.1
68670092
68679221
CDH3
CDH3-004
HGNC Symbol
HGNC transcript name
11
49.26
protein_coding
processed_transcript
ensembl_hava
havana
KNOWN
PUTATIVE
1001
1762
CDH3
27514
MSeqDR Master Exome Data Set M1: 265 entries from same gene
No.
Chr
Position
Reference
Variant
EnsemblTranscriptID
EnsemblGeneID
Gene_Start
Gene_End
EnsemblProteinID
Gene
strand
Uniprot
cChange
pChange
Nature
dbSNP
Freq
EVS
phastCons
SIFT
Polyphen
HGMD
type
samples
1
16
68678746
A
G
ENST00000264012
ENSG00000062038
68670092
68756519
ENSP00000264012
CDH3
1
CADH3_HUMAN
-
-
5'_UTR
rs11644435
0.2244
-
-
-
-
-
het
208
2
16
68678746
A
G
ENST00000264012
ENSG00000062038
68670092
68756519
ENSP00000264012
CDH3
1
CADH3_HUMAN
-
-
5'_UTR
rs11644435
0.2244
-
-
-
-
-
hom
25
3
16
68678756
G
C
ENST00000264012
ENSG00000062038
68670092
68756519
ENSP00000264012
CDH3
1
CADH3_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
4
16
68678857
C
A
ENST00000264012
ENSG00000062038
68670092
68756519
ENSP00000264012
CDH3
1
CADH3_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
5
16
68678880
T
C
ENST00000264012
ENSG00000062038
68670092
68756519
ENSP00000264012
CDH3
1
CADH3_HUMAN
-
-
5'_UTR
rs146833318
0.0032
-
-
-
-
-
het
2
6
16
68678884
G
C
ENST00000264012
ENSG00000062038
68670092
68756519
ENSP00000264012
CDH3
1
CADH3_HUMAN
-
-
5'_UTR
rs74674351
0.0172
-
-
-
-
-
het
10
7
16
68679086
T
C
ENST00000264012
ENSG00000062038
68670092
68756519
ENSP00000264012
CDH3
1
CADH3_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
4
8
16
68679086
T
C
ENST00000429102
ENSG00000062038
68670092
68756519
ENSP00000398485
CDH3
1
CADH3_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
4
9
16
68679086
T
C
ENST00000565453
ENSG00000062038
68670092
68756519
-
CDH3
1
-
c.397T>C
p.W133R
non-syn
NA
-
-
-
-
-
-
het
4
10
16
68679142
C
T
ENST00000264012
ENSG00000062038
68670092
68756519
ENSP00000264012
CDH3
1
CADH3_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
11
16
68679142
C
T
ENST00000429102
ENSG00000062038
68670092
68756519
ENSP00000398485
CDH3
1
CADH3_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
12
16
68679142
C
T
ENST00000565453
ENSG00000062038
68670092
68756519
-
CDH3
1
-
c.453C>T
p.G151G
syn
NA
-
-
-
-
-
-
het
1
13
16
68679198
G
A
ENST00000264012
ENSG00000062038
68670092
68756519
ENSP00000264012
CDH3
1
CADH3_HUMAN
-
-
5'_UTR
rs149144109
0.011
-
-
-
-
-
het
1
14
16
68679198
G
A
ENST00000429102
ENSG00000062038
68670092
68756519
ENSP00000398485
CDH3
1
CADH3_HUMAN
-
-
5'_UTR
rs149144109
0.011
-
-
-
-
-
het
1
15
16
68679198
G
A
ENST00000565453
ENSG00000062038
68670092
68756519
-
CDH3
1
-
c.509G>A
p.G170E
non-syn
rs149144109
0.011
-
-
-
-
-
het
1
16
16
68710279
T
+C
ENST00000264012
ENSG00000062038
68670092
68756519
ENSP00000264012
CDH3
1
CADH3_HUMAN
-
-
-9bp 3'_splice_site
NA
-
-
-
-
-
-
het
2
17
16
68710279
T
+C
ENST00000429102
ENSG00000062038
68670092
68756519
ENSP00000398485
CDH3
1
CADH3_HUMAN
-
-
-9bp 3'_splice_site
NA
-
-
-
-
-
-
het
2
18
16
68710279
T
+C
ENST00000542274
ENSG00000062038
68670092
68756519
ENSP00000464021
CDH3
1
-
-
-
-9bp 3'_splice_site
NA
-
-
-
-
-
-
het
2
19
16
68710279
T
+C
ENST00000581171
ENSG00000062038
68670092
68756519
ENSP00000462948
CDH3
1
-
-
-
-9bp 3'_splice_site
NA
-
-
-
-
-
-
het
2
20
16
68712089
G
A
ENST00000264012
ENSG00000062038
68670092
68756519
ENSP00000264012
CDH3
1
CADH3_HUMAN
c.299G>A
p.R100H
non-syn
NA
-
-
-
TOLERATED
B
-
het
2
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