Variant Results

or

Results for "CDH4"

Variant Events: 105

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

CDH4

13324.p1

chr20:
60377505-60377505

G

T

intronic

De novo

-

Turner2016 G

CDH4

2-1283-004

chr20:
59906745-59906745

C

A

intronic

De novo

-

Yuen2017 G

CDH4

A8

chr20:
60442936-60442936

A

G

intronic

De novo

-

Wu2018 G

CDH4

AU3765302

chr20:
60311861-60311861

C

T

intronic

De novo

-

Yuen2017 G

CDH4

1-0299-003

chr20:
59906634-59906634

C

A

intronic

De novo

-

Yuen2017 G

CDH4

AU2569301

chr20:
60322269-60322269

G

A

intronic

De novo

-

Yuen2017 G

CDH4

1-0161-004

chr20:
59906745-59906745

C

A

intronic

De novo

-

Yuen2017 G

CDH4

1-0158-012

chr20:
59906686-59906686

G

GACCCGACCACCTC

intronic

De novo

-

Yuen2017 G

CDH4

2-1261-003

chr20:
59912378-59912378

A

ACAG

intronic

De novo

-

Yuen2017 G

CDH4

SP0094919

chr20:
60508111-60508111

A

G

exonic

De novo

nonsynonymous SNV

NM_001252338
NM_001252339
NM_001794

c.A2197G
c.A2086G
c.A2308G

p.I733V
p.I696V
p.I770V

24.3

-

Fu2022 E

CDH4

1-0632-003

chr20:
59912392-59912392

G

GATCATA

intronic

De novo

-

Yuen2017 G

CDH4

1-0161-004

chr20:
60353068-60353068

T

TCCACATGC

intronic

De novo

-

Yuen2017 G

CDH4

1-0632-003

chr20:
59906634-59906634

C

A

intronic

De novo

-

Yuen2017 G

CDH4

SP0062502

chr20:
60512011-60512011

C

A

UTR3

De novo

-

Fu2022 E

CDH4

AU2381302

chr20:
60097137-60097137

G

T

intronic

De novo

-

Yuen2017 G

CDH4

2-1261-003

chr20:
60080678-60080678

A

G

intronic

De novo

-

Yuen2017 G

CDH4

2-1505-003

chr20:
60316100-60316100

A

G

intronic

De novo

-

Yuen2017 G

CDH4

2-0202-004

chr20:
60370167-60370167

G

GTGA

intronic

De novo

-

Yuen2017 G

CDH4

11074.p1

chr20:
60485668-60485668

G

A

intronic

De novo, Mosaic

-

6.695E-5

Dou2017 E
Krumm2015 E

CDH4

11316.p1

chr20:
60148128-60148134

AGATGGT

GGA

intronic

De novo

-

Krumm2015 E

CDH4

AU3716301

chr20:
60129443-60129443

G

A

intronic

De novo

-

Yuen2017 G

CDH4

2-1290-004

chr20:
59906634-59906634

C

A

intronic

De novo

-

Yuen2017 G

CDH4

5-0015-003

chr20:
60370191-60370191

A

ATGG

intronic

De novo

-

Yuen2017 G

CDH4

1-0339-004

chr20:
60399189-60399189

C

G

intronic

De novo

-

Yuen2017 G

CDH4

12894.p1

chr20:
59904350-59904350

G

C

intronic

Mosaic Pat.

-

Dou2017 E

CDH4

1-0051-005

chr20:
60370133-60370133

G

GTA

intronic

De novo

-

Yuen2017 G

CDH4

2-0045-003

chr20:
59867546-59867546

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CDH4

AU4219302

chr20:
60334147-60334147

C

T

intronic

De novo

-

Yuen2017 G

CDH4

1-0206-003

chr20:
59906714-59906714

C

A

intronic

De novo

-

Yuen2017 G

CDH4

1-0402-004

chr20:
60370178-60370178

G

GGTGATGGTA

intronic

De novo

-

Yuen2017 G

CDH4

13221.p1

chr20:
59904412-59904412

G

A

intronic

Mosaic

-

Dou2017 E

CDH4

2-1176-003

chr20:
59906729-59906729

C

T

intronic

De novo

-

Yuen2017 G

CDH4

7-0095-004

chr20:
59906690-59906690

C

CGGCCACCTGCCCT

intronic

De novo

-

Yuen2017 G

CDH4

1-0484-003

chr20:
59906634-59906634

C

A

intronic

De novo

-

Yuen2017 G

CDH4

5-0017-004

chr20:
59906640-59906640

C

T

intronic

De novo

-

Yuen2017 G

CDH4

5-0017-004

chr20:
60370191-60370191

A

ATGG

intronic

De novo

-

Yuen2017 G

CDH4

AU1223301

chr20:
60428658-60428658

C

T

intronic

De novo

-

Yuen2017 G

CDH4

2-1339-003

chr20:
59906634-59906634

C

A

intronic

De novo

-

Yuen2017 G

CDH4

1-0551-004

chr20:
59906727-59906727

C

CACCTCCTGCCCCAGCCACCTGCCTCAGATCT

intronic

De novo

-

Yuen2017 G

CDH4

5-0014-003

chr20:
59906634-59906634

C

A

intronic

De novo

-

Yuen2017 G

CDH4

1-0261-004

chr20:
59906638-59906638

C

T

intronic

De novo

-

Yuen2017 G

CDH4

2-0215-003

chr20:
60370187-60370187

G

GATGGT

intronic

De novo

-

Yuen2017 G

CDH4

1-0248-003

chr20:
60481985-60481985

C

T

intronic

De novo

-

Yuen2017 G

CDH4

1-0495-003

chr20:
59906014-59906014

A

C

intronic

De novo

-

Yuen2017 G

CDH4

1-0563-004

chr20:
59906682-59906682

T

TCCTGACCAAGCCA

intronic

De novo

-

Yuen2017 G

CDH4

AU049304

chr20:
60079761-60079761

C

T

intronic

De novo

-

Yuen2017 G

CDH4

2-0068-003

chr20:
60455833-60455833

G

A

intronic

De novo

-

Yuen2017 G

CDH4

1-0323-003

chr20:
59906665-59906665

C

A

intronic

De novo

-

Yuen2017 G

CDH4

1-0186-005

chr20:
60398352-60398352

A

G

intronic

De novo

-

Yuen2017 G

CDH4

2-0007-004

chr20:
59906640-59906640

C

T

intronic

De novo

-

Yuen2017 G

CDH4

7-0082-003

chr20:
59906745-59906745

C

A

intronic

De novo

-

Yuen2017 G

CDH4

1-0466-003

chr20:
60379296-60379296

G

T

intronic

De novo

-

Yuen2017 G

CDH4

AU1795303

chr20:
60093454-60093454

G

C

intronic

De novo

-

Yuen2017 G

CDH4

2-1362-003

chr20:
60343519-60343519

C

T

intronic

De novo

-

Yuen2017 G

CDH4

1-0935-003

chr20:
60495974-60495980

CGTGGTG

CGTG

intronic

De novo

-

Yuen2017 G

CDH4

2-0149-004

chr20:
60370191-60370191

A

ATGG

intronic

De novo

-

Yuen2017 G

CDH4

AU4029301

chr20:
60446074-60446074

A

G

intronic

De novo

-

Yuen2017 G

CDH4

1-0565-004

chr20:
59853930-59853930

T

C

intronic

De novo

-

Yuen2017 G

CDH4

1-0359-003

chr20:
60445410-60445410

G

A

intronic

De novo

-

Yuen2017 G

CDH4

2-0278-003

chr20:
60464792-60464812

TGATGGATGGATGGATGGATG

TGATGGATGGATGGATG

intronic

De novo

-

Yuen2017 G

CDH4

1-0305-004

chr20:
59906727-59906727

C

CAGATCT

intronic

De novo

-

Yuen2017 G

CDH4

1-0401-003

chr20:
60370134-60370134

G

GGA

intronic

De novo

-

Yuen2017 G

CDH4

AU4145303

chr20:
60169981-60170004

CTTCATTCATTCATTCATTCATTC

CTTCATTCATTCATTCATTCATTCATTC

intronic

De novo

-

Yuen2017 G

CDH4

1-0414-005

chr20:
60370191-60370191

A

ATGG

intronic

De novo

-

Yuen2017 G

CDH4

1-0918-003

chr20:
60036642-60036642

C

T

intronic

De novo

-

Yuen2017 G

CDH4

2-1085-003

chr20:
60440954-60440954

G

T

intronic

De novo

-

Yuen2017 G

CDH4

1-0022-004

chr20:
59949618-59949618

G

A

intronic

De novo

-

Yuen2017 G

CDH4

2-1382-003

chr20:
60220359-60220359

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CDH4

1-0175-004

chr20:
59906634-59906634

C

A

intronic

De novo

-

Yuen2017 G

CDH4

1-0051-004

chr20:
59906665-59906665

C

A

intronic

De novo

-

Yuen2017 G

CDH4

1-0526-003

chr20:
60250170-60250170

C

T

intronic

De novo

-

Yuen2017 G

CDH4

2-0219-004

chr20:
60260344-60260344

C

A

intronic

De novo

-

Yuen2017 G

CDH4

AU3398301

chr20:
60412227-60412227

C

T

intronic

De novo

-

Yuen2017 G

CDH4

1-0552-003

chr20:
60206299-60206299

G

C

intronic

De novo

-

Yuen2017 G

CDH4

1-0052-004

chr20:
60162943-60162943

C

A

intronic

De novo

-

Yuen2017 G

CDH4

1-0218-004

chr20:
60499957-60499957

T

TC

intronic

De novo

-

Yuen2017 G

CDH4

AU2035302

chr20:
60495843-60495846

GGTA

G

intronic

De novo

-

Yuen2017 G

CDH4

1-0406-003

chr20:
60370173-60370173

A

ATGATGGTAG

intronic

De novo

-

Yuen2017 G

CDH4

5-0018-003

chr20:
60370191-60370191

A

ATGG

intronic

De novo

-

Yuen2017 G

CDH4

1-0252-003

chr20:
60105563-60105563

T

C

intronic

De novo

-

Yuen2017 G

CDH4

2-1406-003

chr20:
60251290-60251290

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CDH4

2-1290-003

chr20:
59912378-59912378

A

ACAG

intronic

De novo

-

Yuen2017 G

CDH4

1-0481-003

chr20:
59906682-59906682

T

TCCTGACCAAGCCA

intronic

De novo

-

Yuen2017 G

CDH4

2-0088-003

chr20:
59906736-59906736

C

A

intronic

De novo

-

Yuen2017 G

CDH4

7-0256-003

chr20:
59882526-59882526

C

T

intronic

De novo

-

Yuen2017 G

CDH4

1-0344-003

chr20:
60473263-60473263

G

A

intronic

De novo

-

Yuen2017 G

CDH4

5-0033-004

chr20:
59906634-59906634

C

A

intronic

De novo

-

Yuen2017 G

CDH4

1-0059-003

chr20:
60352677-60352677

T

TCCACATGCGCACACACAG

intronic

De novo

-

Yuen2017 G

CDH4

2-1719-003

chr20:
60025798-60025798

G

A

intronic

De novo

-

Yuen2017 G

CDH4

1-0169-003

chr20:
60370187-60370187

G

GATGGT

intronic

De novo

-

Yuen2017 G

CDH4

iHART2949

chr20:
60499488-60499488

C

A

exonic

Maternal

stopgain

NM_001252338
NM_001252339
NM_001794

c.C1614A
c.C1503A
c.C1725A

p.Y538X
p.Y501X
p.Y575X

39.0

-

Ruzzo2019 G

CDH4

1-0300-003

chr20:
60370191-60370191

A

ATGG

intronic

De novo

-

Yuen2017 G

CDH4

1-0150-003

chr20:
59906665-59906665

C

A

intronic

De novo

-

Yuen2017 G

CDH4

2-1335-004

chr20:
59906736-59906736

C

A

intronic

De novo

-

Yuen2017 G

CDH4

2-1366-003

chr20:
60370166-60370166

G

GATGGTA

intronic

De novo

-

Yuen2017 G

CDH4

AU057404

chr20:
60378768-60378768

G

A

intronic

De novo

-

Yuen2017 G

CDH4

AU2137304

chr20:
59830356-59830358

TGG

TG

intronic

De novo

-

Yuen2017 G

CDH4

2-0214-004

chr20:
60370191-60370191

A

ATGG

intronic

De novo

-

Yuen2017 G

CDH4

AU3368303

chr20:
60017333-60017333

G

A

intronic

De novo

-

Yuen2017 G

CDH4

2-0307-004

chr20:
60163157-60163157

A

C

intronic

De novo

-

Yuen2017 G

CDH4

2-0149-005

chr20:
59906634-59906634

C

A

intronic

De novo

-

Yuen2017 G

CDH4

2-1164-003

chr20:
59930759-59930773

CTGTGTGTGTGTGTG

CTGTGTGTGTGTG

intronic

De novo

-

Yuen2017 G

CDH4

2-1231-003

chr20:
59983676-59983676

G

A

intronic

De novo

-

Yuen2017 G

CDH4

1-0563-003

chr20:
59906714-59906714

C

A

intronic

De novo

-

Yuen2017 G

CDH4

2-0033-003

chr20:
60350429-60350429

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

Source Variant Information

, -

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	View
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