Variant Results

or

Results for "CDH2"

Variant Events: 112

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

CDH2

7-0253-005

chr18:
26713714-26713714

G

A

intergenic

De novo

-

Yuen2017 G

CDH2

7-0253-005

chr18:
26716961-26716961

G

C

intergenic

De novo

-

Yuen2017 G

CDH2

SP0091585

chr18:
25585868-25585868

T

C

exonic

De novo

synonymous SNV

NM_001308176
NM_001792

c.A699G
c.A792G

p.R233R
p.R264R

-

Fu2022 E

CDH2

1-0381-003

chr18:
26165399-26165399

G

A

intergenic

De novo

-

Yuen2017 G

CDH2

AU0638302

chr18:
27460599-27460599

C

T

intergenic

De novo

-

Yuen2017 G

CDH2

1-0299-003

chr18:
26126858-26126858

A

G

intergenic

De novo

-

Yuen2017 G

CDH2

7-0247-003

chr18:
26504086-26504100

CATATATATATATAT

CATATATATATAT

intergenic

De novo

-

Yuen2017 G

CDH2

1-0121-003

chr18:
26996993-26996993

C

T

intergenic

De novo

-

Yuen2017 G

CDH2

1-0555-003

chr18:
26593863-26593863

T

C

intergenic

De novo

-

Yuen2017 G

CDH2

2-1373-003

chr18:
25886847-25886847

C

A

intergenic

De novo

-

Yuen2017 G

CDH2

1-0826-004

chr18:
25817399-25817399

A

G

intergenic

De novo

-

Yuen2017 G

CDH2

5-0129-003

chr18:
26325762-26325762

G

C

intergenic

De novo

-

Yuen2017 G

CDH2

13143.p1

chr18:
26351525-26351525

A

G

intergenic

De novo

-

Wilfert2021 G

CDH2

2-1305-003

chr18:
26440458-26440458

A

C

intergenic

De novo

-

Yuen2017 G

CDH2

2-0149-003

chr18:
27759322-27759322

A

G

intergenic

De novo

-

Yuen2017 G

CDH2

1-0436-003

chr18:
27251530-27251530

G

A

intergenic

De novo

-

Yuen2016 G

CDH2

AU3881301

chr18:
27011001-27011001

C

T

intergenic

De novo

-

Yuen2017 G

CDH2

2-1127-003

chr18:
27429697-27429697

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDH2

AU3900301

chr18:
27608227-27608227

C

G

intergenic

De novo

-

Yuen2017 G

CDH2

2-1702-003

chr18:
27762025-27762025

A

ATAT

intergenic

De novo

-

Yuen2017 G

CDH2

3-0246-000

chr18:
26929960-26929960

T

C

intergenic

De novo

-

Yuen2017 G

CDH2

5-0015-003

chr18:
27759221-27759221

A

G

intergenic

De novo

-

Yuen2017 G

CDH2

2-1619-004

chr18:
26917945-26917945

T

TATA

intergenic

De novo

-

Yuen2017 G

CDH2

2-1619-004

chr18:
25769120-25769120

G

GAGTC

intergenic

De novo

-

Yuen2017 G

CDH2

12362.p1

chr18:
25532312-25532312

C

T

exonic

De novo

synonymous SNV

NM_001308176
NM_001792

c.G2433A
c.G2526A

p.A811A
p.A842A

-

2.479E-5

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

CDH2

AU4347301

chr18:
27318490-27318492

ATT

ATTT

intergenic

De novo

-

Yuen2017 G

CDH2

AU1725306

chr18:
26933623-26933623

G

A

intergenic

De novo

-

Yuen2017 G

CDH2

2-1343-003

chr18:
27286679-27286703

TTTGTTGTTGTTGTTGTTGTTGTTG

TTTGTTGTTGTTGTTGTTGTTG

intergenic

De novo

-

Yuen2017 G

CDH2

SSC04909

chr18:
25532312-25532312

C

T

exonic

De novo

synonymous SNV

NM_001308176
NM_001792

c.G2433A
c.G2526A

p.A811A
p.A842A

-

2.479E-5

Fu2022 E

CDH2

14260.p1

chr18:
26400387-26400387

G

A

intergenic

De novo

-

Werling2018 G

CDH2

2-0197-004

chr18:
27499667-27499667

A

T

intergenic

De novo

-

Yuen2017 G

CDH2

1-0272-003

chr18:
27759229-27759229

A

G

intergenic

De novo

-

Yuen2017 G

CDH2

1-0520-003

chr18:
26666303-26666303

C

A

intergenic

De novo

-

Yuen2016 G

CDH2

1-0019-004

chr18:
27438331-27438331

C

T

intergenic

De novo

-

Yuen2017 G

CDH2

AU4054302

chr18:
27234159-27234159

A

G

intergenic

De novo

-

Yuen2017 G

CDH2

1-0484-003

chr18:
27453004-27453004

C

A

intergenic

De novo

-

Yuen2017 G

CDH2

1-0006-004

chr18:
25725316-25725316

G

A

intronic

De novo

-

Yuen2017 G

CDH2

1-0627-007

chr18:
27554434-27554434

C

G

intergenic

De novo

-

Yuen2017 G

CDH2

2-0309-004

chr18:
26198359-26198359

G

A

intergenic

De novo

-

Yuen2017 G

CDH2

2-1186-003

chr18:
27559769-27559769

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDH2

1-0025-006

chr18:
27248664-27248664

T

C

intergenic

De novo

-

Yuen2017 G

CDH2

2-1581-003

chr18:
26295326-26295326

G

A

intergenic

De novo

-

Yuen2017 G

CDH2

7-0002-003

chr18:
26684502-26684502

A

G

intergenic

De novo

-

Yuen2017 G

CDH2

1-0233-004

chr18:
27759221-27759221

A

G

intergenic

De novo

-

Yuen2017 G

CDH2

5-0131-003

chr18:
27250657-27250657

A

G

intergenic

De novo

-

Yuen2017 G

CDH2

1-0403-003

chr18:
27286836-27286836

G

A

intergenic

De novo

-

Yuen2017 G

CDH2

1-0455-004

chr18:
26838068-26838068

T

C

intergenic

De novo

-

Yuen2017 G

CDH2

1-0099-003

chr18:
27290275-27290275

T

C

intergenic

De novo

-

Yuen2017 G

CDH2

2-1350-004

chr18:
27703494-27703494

G

A

intergenic

De novo

-

Yuen2017 G

CDH2

AU3053302

chr18:
26255300-26255300

C

G

intergenic

De novo

-

Yuen2017 G

CDH2

AU3649304

chr18:
26813893-26813893

T

C

intergenic

De novo

-

Yuen2017 G

CDH2

AU4093304

chr18:
26239692-26239692

G

T

intergenic

De novo

-

Yuen2017 G

CDH2

AU4093304

chr18:
26248815-26248815

T

A

intergenic

De novo

-

Yuen2017 G

CDH2

JASD_Fam0038

chr18:
25589713-25589713

G

A

exonic

De novo

nonsynonymous SNV

NM_001308176
NM_001792

c.C577T
c.C670T

p.P193S
p.P224S

33.0

-

Takata2018 E

CDH2

1-0556-003

chr18:
27390549-27390549

C

T

intergenic

De novo

-

Yuen2017 G

CDH2

2-0149-004

chr18:
27759322-27759322

A

G

intergenic

De novo

-

Yuen2017 G

CDH2

1-0674-004

chr18:
27463448-27463448

T

C

intergenic

De novo

-

Yuen2017 G

CDH2

AU2089302

chr18:
26912704-26912704

T

G

intergenic

De novo

-

Yuen2017 G

CDH2

AU073003

chr18:
27111231-27111237

CAGAGAG

CAGAG

intergenic

De novo

-

Yuen2017 G

CDH2

1-0272-004

chr18:
26680266-26680266

A

G

intergenic

De novo

-

Yuen2017 G

CDH2

2-0002-005

chr18:
25655561-25655561

G

A

intronic

De novo

-

Yuen2017 G

CDH2

1-0346-004

chr18:
25735014-25735014

T

C

intronic

De novo

-

Yuen2017 G

CDH2

7-0194-003

chr18:
26688811-26688811

A

G

intergenic

De novo

-

Yuen2017 G

CDH2

3-0396-000

chr18:
27244553-27244553

G

A

intergenic

De novo

-

Yuen2016 G

CDH2

1-0560-003

chr18:
25959409-25959409

T

C

intergenic

De novo

-

Yuen2017 G

CDH2

AU2022302

chr18:
27431968-27431968

A

G

intergenic

De novo

-

Yuen2017 G

CDH2

1-0120-003

chr18:
27154056-27154056

A

G

intergenic

De novo

-

Yuen2017 G

CDH2

1-0303-003

chr18:
25871803-25871803

T

A

intergenic

De novo

-

Yuen2017 G

CDH2

5-0128-003

chr18:
26843649-26843649

C

T

intergenic

De novo

-

Yuen2017 G

CDH2

2-1627-003

chr18:
27236141-27236141

A

G

intergenic

De novo

-

Yuen2017 G

CDH2

AU4152303

chr18:
27099642-27099642

T

A

intergenic

De novo

-

Yuen2017 G

CDH2

1-0045-004

chr18:
26823007-26823007

A

T

intergenic

De novo

-

Yuen2017 G

CDH2

2-1138-003

chr18:
26619629-26619629

C

G

intergenic

De novo

-

Yuen2017 G

CDH2

AU4235303

chr18:
26948172-26948172

G

C

intergenic

De novo

-

Yuen2017 G

CDH2

2-1169-003

chr18:
26747284-26747284

T

C

intergenic

De novo

-

Yuen2017 G

CDH2

1-0489-003

chr18:
26202874-26202874

G

C

intergenic

De novo

-

Yuen2017 G

CDH2

2-1169-003

chr18:
26293064-26293064

C

T

intergenic

De novo

-

Yuen2017 G

CDH2

2-0272-003

chr18:
27256256-27256256

G

A

intergenic

De novo

-

Yuen2017 G

CDH2

1-0184-003

chr18:
26831604-26831612

CATAGATAG

CATAG

intergenic

De novo

-

Yuen2017 G

CDH2

2-1438-003

chr18:
27354975-27354975

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDH2

2-1357-003

chr18:
26160682-26160682

C

T

intergenic

De novo

-

Yuen2017 G

CDH2

2-0309-005

chr18:
26661563-26661563

T

C

intergenic

De novo

-

Yuen2017 G

CDH2

1-0863-003

chr18:
25985276-25985276

G

A

intergenic

De novo

-

Yuen2017 G

CDH2

2-1437-003

chr18:
26021906-26021906

C

T

intergenic

De novo

-

Yuen2017 G

CDH2

2-1577-003

chr18:
27581869-27581870

CA

C

intergenic

De novo

-

Yuen2017 G

CDH2

AU3057301

chr18:
27151127-27151127

C

T

intergenic

De novo

-

Yuen2017 G

CDH2

1-0898-003

chr18:
26132197-26132197

C

T

intergenic

De novo

-

Yuen2017 G

CDH2

1-0591-003

chr18:
25735235-25735252

GTAATAATAATAATAATA

GTAATAATAATAATA

intronic

De novo

-

Yuen2017 G

CDH2

1-0435-003

chr18:
27064257-27064257

A

G

intergenic

De novo

-

Yuen2017 G

CDH2

AU3154301

chr18:
26548415-26548415

A

G

intergenic

De novo

-

Yuen2017 G

CDH2

2-1348-003

chr18:
25671457-25671457

T

C

intronic

De novo

-

Yuen2017 G

CDH2

5-0033-004

chr18:
27244329-27244329

T

C

intergenic

De novo

-

Yuen2017 G

CDH2

1-0320-004

chr18:
26357467-26357467

A

T

intergenic

De novo

-

Yuen2017 G

CDH2

2-1525-003

chr18:
25821148-25821148

T

G

intergenic

De novo

-

Yuen2017 G

CDH2

1-0969-003

chr18:
26972197-26972203

CAAAAAA

CAAAAAAA

intergenic

De novo

-

Yuen2017 G

CDH2

AU4412302

chr18:
26985013-26985013

C

T

intergenic

De novo

-

Yuen2017 G

CDH2

AU2123302

chr18:
26953340-26953340

G

T

intergenic

De novo

-

Yuen2017 G

CDH2

12493.p1

chr18:
26851291-26851291

C

T

intergenic

De novo

-

Turner2016 G

CDH2

2-0132-004

chr18:
25918897-25918897

T

C

intergenic

De novo

-

Yuen2017 G

CDH2

AU073005

chr18:
26790488-26790488

C

T

intergenic

De novo

-

Yuen2017 G

CDH2

AU3302302

chr18:
27080419-27080419

G

C

intergenic

De novo

-

Yuen2017 G

CDH2

2-0063-003

chr18:
27030784-27030784

T

G

intergenic

De novo

-

Yuen2017 G

CDH2

AU1698301

chr18:
27017994-27017994

G

A

intergenic

De novo

-

Yuen2017 G

CDH2

G01-GEA-84-HI

chr18:
25616535-25616535

T

C

UTR5

De novo

-

Satterstrom2020 E

CDH2

2-0006-004

chr18:
25912880-25912880

A

G

intergenic

De novo

-

Yuen2017 G

CDH2

AU4235301

chr18:
27054884-27054884

T

C

intergenic

De novo

-

Yuen2017 G

CDH2

AU4378301

chr18:
26748163-26748163

C

T

intergenic

De novo

-

Yuen2017 G

CDH2

AU2863302

chr18:
25941506-25941506

C

T

intergenic

De novo

-

Yuen2017 G

CDH2

1-0563-003

chr18:
27342328-27342328

C

T

intergenic

De novo

-

Yuen2017 G

CDH2

5-0083-003

chr18:
26879945-26879945

C

A

intergenic

De novo

-

Yuen2017 G

CDH2

2-0270-003

chr18:
26591221-26591221

A

AC

intergenic

De novo

-

Yuen2017 G

CDH2

AU2458302

chr18:
26088031-26088031

A

T

intergenic

De novo

-

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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