Variant Results

or

Results for "CTNND2"

Variant Events: 154

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

CTNND2

AU4264302

chr5:
11083187-11083187

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

Stessman2017:ASD_1169

chr5:
11159769-11159769

C

T

exonic

Unknown

stopgain

NM_001288716
NM_001288715
NM_001288717
NM_001332

c.G1067A
c.G1805A
c.G779A
c.G2078A

p.W356X
p.W602X
p.W260X
p.W693X

43.0

-

Stessman2017 T

CTNND2

1-0375-003

chr5:
11164619-11164619

C

T

intronic

De novo

-

Yuen2016 G

CTNND2

2-1180-003

chr5:
12094709-12094709

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CTNND2

AU056803

chr5:
12007549-12007549

A

T

intergenic

De novo

-

Yuen2017 G

CTNND2

2-1690-003

chr5:
12444643-12444643

A

G

intergenic

De novo

-

Yuen2017 G

CTNND2

2-1507-003

chr5:
11638248-11638248

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

A22

chr5:
12307991-12307991

A

G

intergenic

De novo

-

Wu2018 G

CTNND2

AU3840302

chr5:
12398663-12398663

C

T

intergenic

De novo

-

Yuen2017 G

CTNND2

1-0155-003

chr5:
12492432-12492432

C

G

intergenic

De novo

-

Yuen2017 G

CTNND2

2-1185-003

chr5:
11561412-11561412

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

11328.p1

chr5:
11175102-11175109

TCTATTAA

T

intronic

De novo

-

Werling2018 G

CTNND2

1-0075-003

chr5:
11537130-11537130

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

2-1288-003

chr5:
12264499-12264499

G

A

intergenic

De novo

-

Yuen2017 G

CTNND2

1-0200-004

chr5:
11096450-11096450

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

5-5153-003

chr5:
11013112-11013112

T

C

intronic

De novo

-

Trost2022 G

CTNND2

3-0526-000

chr5:
11038657-11038657

A

C

intronic

De novo

-

Trost2022 G

CTNND2

1-0394-003

chr5:
11753695-11753695

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

AU017304

chr5:
12069673-12069673

G

A

intergenic

De novo

-

Yuen2017 G

CTNND2

2-1757-003

chr5:
10986385-10986385

T

C

intronic

De novo

-

Trost2022 G

CTNND2

1-0138-003

chr5:
11003947-11003947

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

4-0039-003

chr5:
11162857-11162859

GAG

TTT

intronic

De novo

-

Trost2022 G

CTNND2

7-0342-005

chr5:
11175497-11175497

T

G

intronic

De novo

-

Trost2022 G

CTNND2

1-1044-003

chr5:
11125891-11125891

C

T

intronic

De novo

-

Trost2022 G

CTNND2

1-0147-003

chr5:
11162857-11162859

GAG

TTT

intronic

De novo

-

Trost2022 G

CTNND2

MSSNG00129-003

chr5:
11102843-11102843

C

T

intronic

De novo

-

Trost2022 G

CTNND2

3-0873-000

chr5:
11109576-11109576

A

G

intronic

De novo

-

Trost2022 G

CTNND2

1031

chr5:
11057478-11057478

G

A

intronic

De novo

-

Trost2022 G

CTNND2

1-0654-003

chr5:
11066878-11066878

G

A

intronic

De novo

-

Trost2022 G

CTNND2

AU3779301

chr5:
11326116-11326116

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

2-1458-003

chr5:
11285978-11285981

TATG

AGAGAGCAC

intronic

De novo

-

Trost2022 G

CTNND2

AU3517301

chr5:
12202592-12202592

G

A

intergenic

De novo

-

Yuen2017 G

CTNND2

5-0009-003

chr5:
11291247-11291247

G

A

intronic

De novo

-

Trost2022 G

CTNND2

MSSNG00134-003

chr5:
11232134-11232134

G

A

intronic

De novo

-

Trost2022 G

CTNND2

1-1011-003

chr5:
11268595-11268595

T

TG

intronic

De novo

-

Trost2022 G

CTNND2

2-1294-003

chr5:
11227818-11227822

AGGTA

TTCTG

intronic

De novo

-

Trost2022 G

CTNND2

AU1640302

chr5:
10998068-10998068

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

2-1294-004

chr5:
11227818-11227822

AGGTA

TTCTG

intronic

De novo

-

Trost2022 G

CTNND2

REACH000154

chr5:
11183792-11183792

C

T

intronic

De novo

-

Trost2022 G

CTNND2

MSSNG00045-005

chr5:
11205104-11205104

T

A

intronic

De novo

-

Trost2022 G

CTNND2

A5

chr5:
12330667-12330667

T

G

intergenic

De novo

-

Wu2018 G

CTNND2

REACH000229

chr5:
11492649-11492649

A

G

intronic

De novo

-

Trost2022 G

CTNND2

2-1766-003

chr5:
11524216-11524216

C

CAGG

intronic

De novo

-

Trost2022 G

CTNND2

AU4032306

chr5:
11850449-11850449

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

7-0303-003

chr5:
11445624-11445624

C

T

intronic

De novo

-

Trost2022 G

CTNND2

AU3900302

chr5:
11548608-11548608

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

REACH000319

chr5:
11491286-11491286

G

A

intronic

De novo

-

Trost2022 G

CTNND2

5-0009-003

chr5:
11391838-11391838

A

G

intronic

De novo

-

Trost2022 G

CTNND2

3-0070-000

chr5:
11395355-11395355

G

A

intronic

De novo

-

Trost2022 G

CTNND2

2-1106-004

chr5:
11293126-11293126

C

T

intronic

De novo

-

Trost2022 G

CTNND2

7-0219-003

chr5:
12185045-12185045

C

A

intergenic

De novo

-

Yuen2017 G

CTNND2

MT_54.3

chr5:
11381806-11381806

G

A

intronic

De novo

-

Trost2022 G

CTNND2

MSSNG00100-003

chr5:
11627033-11627034

TG

T

intronic

De novo

-

Trost2022 G

CTNND2

1032

chr5:
11628048-11628048

G

A

intronic

De novo

-

Trost2022 G

CTNND2

2-1433-003

chr5:
11593230-11593230

G

A

intronic

De novo

-

Trost2022 G

CTNND2

M23212

chr5:
11022936-11022936

G

A

exonic

Unknown

nonsynonymous SNV

NM_001288716
NM_001288715
NM_001288717
NM_001332

c.C1933T
c.C2671T
c.C1645T
c.C2944T

p.R645W
p.R891W
p.R549W
p.R982W

19.17

1.648E-5

Stessman2017 T

CTNND2

1-1103-003

chr5:
11626028-11626028

G

A

intronic

De novo

-

Trost2022 G

CTNND2

REACH000349

chr5:
11555481-11555481

T

C

intronic

De novo

-

Trost2022 G

CTNND2

REACH000668

chr5:
11572760-11572760

G

A

intronic

De novo

-

Trost2022 G

CTNND2

2-1522-003

chr5:
12496416-12496416

T

C

intergenic

De novo

-

Yuen2017 G

CTNND2

REACH000718

chr5:
11527940-11527940

G

A

intronic

De novo

-

Trost2022 G

CTNND2

5-5046-007

chr5:
11538206-11538206

T

G

intronic

De novo

-

Trost2022 G

CTNND2

SP0141690

chr5:
11384920-11384920

G

C

exonic

De novo

nonsynonymous SNV

NM_001288715
NM_001332

c.C761G
c.C1034G

p.P254R
p.P345R

23.8

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CTNND2

1-0164-003

chr5:
11022976-11022976

G

A

exonic

synonymous SNV

NM_001288716
NM_001288715
NM_001288717
NM_001332

c.C1893T
c.C2631T
c.C1605T
c.C2904T

p.H631H
p.H877H
p.H535H
p.H968H

-

4.943E-5

Zhou2022 GE

CTNND2

1-0037-004

chr5:
11765547-11765547

A

G

intronic

De novo

-

Trost2022 G

CTNND2

SP0125315

chr5:
11082841-11082841

T

C

exonic

De novo

nonsynonymous SNV

NM_001288716
NM_001288715
NM_001288717
NM_001332

c.A1744G
c.A2482G
c.A1456G
c.A2755G

p.M582V
p.M828V
p.M486V
p.M919V

23.1

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CTNND2

1-0350-003

chr5:
11773885-11773885

T

C

intronic

De novo

-

Trost2022 G

CTNND2

SP0072995

chr5:
11082978-11082978

G

A

intronic

De novo

-

8.418E-5

Fu2022 E
Trost2022 G

CTNND2

MSSNG00232-003

chr5:
11738174-11738174

G

A

intronic

De novo

-

Trost2022 G

CTNND2

1-0305-004

chr5:
11130923-11130923

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

AU4197302

chr5:
11463752-11463752

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

SP0081142

chr5:
11904091-11904091

G

C

UTR5

De novo

-

Fu2022 E

CTNND2

1-1045-003

chr5:
11749880-11749880

G

T

intronic

De novo

-

Trost2022 G

CTNND2

AU1352302

chr5:
11111014-11111014

C

T

exonic

Paternal

nonsynonymous SNV

NM_001288716
NM_001288715
NM_001288717
NM_001332

c.G1408A
c.G2146A
c.G1120A
c.G2419A

p.G470R
p.G716R
p.G374R
p.G807R

32.0

-

Stessman2017 T

CTNND2

5-1042-003

chr5:
11641806-11641806

G

A

intronic

De novo

-

Trost2022 G

CTNND2

2-1245-003

chr5:
11910882-11910882

C

T

intergenic

De novo

-

Yuen2017 G

CTNND2

7-0497-003

chr5:
11643259-11643259

G

A

intronic

De novo

-

Trost2022 G

CTNND2

2-1811-004

chr5:
11629106-11629106

G

A

intronic

De novo

-

Trost2022 G

CTNND2

AU056204

chr5:
11112614-11112614

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

1-1175-003

chr5:
11641770-11641770

A

G

intronic

De novo

-

Trost2022 G

CTNND2

7-0408-003

chr5:
11877114-11877114

C

A

intronic

De novo

-

Trost2022 G

CTNND2

3-0515-001

chr5:
11886294-11886294

G

A

intronic

De novo

-

Trost2022 G

CTNND2

REACH000097

chr5:
11866415-11866415

T

TA

intronic

De novo

-

Trost2022 G

CTNND2

7-0198-003

chr5:
11866472-11866472

A

AT

intronic

De novo

-

Trost2022 G

CTNND2

211-5259-3

chr5:
10992686-10992686

C

T

exonic

Paternal

nonsynonymous SNV

NM_001288716
NM_001288715
NM_001288717
NM_001332

c.G2177A
c.G2915A
c.G1889A
c.G3188A

p.R726H
p.R972H
p.R630H
p.R1063H

34.0

9.086E-5

Stessman2017 T

CTNND2

3-0475-000

chr5:
11854583-11854583

T

G

intronic

De novo

-

Trost2022 G

CTNND2

5-5237-005

chr5:
11856771-11856771

A

G

intronic

De novo

-

Trost2022 G

CTNND2

REACH000293

chr5:
11812605-11812605

C

A

intronic

De novo

-

Trost2022 G

CTNND2

1-1129-003

chr5:
11838031-11838031

T

C

intronic

De novo

-

Trost2022 G

CTNND2

2-1085-003

chr5:
10985796-10985796

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

AU3911301

chr5:
12048049-12048049

C

T

intergenic

De novo

-

Yuen2017 G

CTNND2

5-0025-004

chr5:
11527584-11527584

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

M21665

chr5:
11159760-11159760

G

A

exonic

Unknown

nonsynonymous SNV

NM_001288716
NM_001288715
NM_001288717
NM_001332

c.C1076T
c.C1814T
c.C788T
c.C2087T

p.S359L
p.S605L
p.S263L
p.S696L

34.0

-

Guo2018 T

CTNND2

1-0007-003

chr5:
11481791-11481806

CAGAGAGAGAGAGAGA

CAGAGAGAGAGAGA

intronic

De novo

-

Yuen2017 G

CTNND2

MSSNG00212-003

chr5:
11887943-11887943

T

C

intronic

De novo

-

Trost2022 G

CTNND2

1-0007-003

chr5:
12550929-12550929

C

G

intergenic

De novo

-

Yuen2017 G

CTNND2

1-0567-004

chr5:
11968365-11968365

A

G

intergenic

De novo

-

Yuen2017 G

CTNND2

AU2333302

chr5:
11277321-11277321

A

G

intronic

De novo

-

Yuen2017 G

CTNND2

1-0567-004

chr5:
11140714-11140714

C

CCAA

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

AU4176302

chr5:
11641931-11641931

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

AU2215302

chr5:
11985809-11985809

G

T

intergenic

De novo

-

Yuen2017 G

CTNND2

2-1223-003

chr5:
11086579-11086579

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

1-0161-003

chr5:
12564753-12564753

G

A

intergenic

De novo

-

Yuen2017 G

CTNND2

2-0219-004

chr5:
11271632-11271632

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

1-0126-003

chr5:
12266785-12266785

C

T

intergenic

De novo

-

Yuen2017 G

CTNND2

1-0673-003

chr5:
12564296-12564296

G

C

intergenic

De novo

-

Yuen2017 G

CTNND2

1-0591-003

chr5:
12180586-12180586

T

C

intergenic

De novo

-

Yuen2017 G

CTNND2

11010.p1

chr5:
12038021-12038021

G

A

intergenic

De novo

-

Werling2018 G

CTNND2

74-0688

chr5:
11405109-11405109

G

A

intronic

De novo

-

Michaelson2012 G

CTNND2

1-0493-003

chr5:
11519849-11519849

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CTNND2

1-0139-005

chr5:
11257007-11257007

T

TTTATGTTATGCATAAATG

intronic

De novo

-

Yuen2017 G

CTNND2

M30910

chr5:
11159760-11159760

G

A

exonic

Maternal

nonsynonymous SNV

NM_001288716
NM_001288715
NM_001288717
NM_001332

c.C1076T
c.C1814T
c.C788T
c.C2087T

p.S359L
p.S605L
p.S263L
p.S696L

34.0

-

Guo2018 T

CTNND2

AU1894303

chr5:
12149720-12149720

C

T

intergenic

De novo

-

Yuen2017 G

CTNND2

AU2156303

chr5:
12045853-12045853

T

C

intergenic

De novo

-

Yuen2017 G

CTNND2

2-1561-003

chr5:
11475054-11475054

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

AU2525302

chr5:
11784440-11784440

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

2-0116-005

chr5:
11920087-11920087

C

G

intergenic

De novo

-

Yuen2017 G

CTNND2

2-1362-004

chr5:
11093423-11093423

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

2-1368-003

chr5:
11846154-11846154

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CTNND2

200675360@1082034754

chr5:
11082977-11082977

C

T

intronic

De novo

-

4.207E-5

Satterstrom2020 E
Trost2022 G

CTNND2

AU3649305

chr5:
11064264-11064264

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

1-0246-004

chr5:
11491792-11491792

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

2-1362-004

chr5:
11257007-11257007

T

TTTATGTTATGCATAAATG

intronic

De novo

-

Yuen2017 G

CTNND2

1-0448-003

chr5:
11807597-11807597

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

2-1506-003

chr5:
11490406-11490406

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

1-0385-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

08C76383

chr5:
11022976-11022976

G

A

exonic

De novo

synonymous SNV

NM_001288716
NM_001288715
NM_001288717
NM_001332

c.C1893T
c.C2631T
c.C1605T
c.C2904T

p.H631H
p.H877H
p.H535H
p.H968H

-

4.943E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CTNND2

M27815

chr5:
11159760-11159760

G

A

exonic

Paternal

nonsynonymous SNV

NM_001288716
NM_001288715
NM_001288717
NM_001332

c.C1076T
c.C1814T
c.C788T
c.C2087T

p.S359L
p.S605L
p.S263L
p.S696L

34.0

-

Guo2018 T
Wang2016 T

CTNND2

2-0070-004

chr5:
11313549-11313549

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

1-0381-003

chr5:
11673583-11673583

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

AU005213

chr5:
12497829-12497829

G

A

intergenic

De novo

-

Yuen2017 G

CTNND2

GX0032.p1

chr5:
11565129-11565129

C

T

exonic

Paternal

nonsynonymous SNV

NM_001332

c.G214A

p.E72K

36.0

-

Guo2018 T

CTNND2

2-1508-004

chr5:
11644644-11644644

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

5-0004-003

chr5:
12433658-12433658

T

TATTTTC

intergenic

De novo

-

Yuen2017 G

CTNND2

13385.p1

chr5:
11477241-11477241

C

T

intronic

De novo

-

Wilfert2021 G

CTNND2

2-1376-003

chr5:
12140258-12140258

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CTNND2

5-0083-003

chr5:
11467641-11467641

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

1-0161-004

chr5:
12564753-12564753

G

A

intergenic

De novo

-

Yuen2017 G

CTNND2

2-1427-003

chr5:
11093778-11093778

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

AU069603

chr5:
11734717-11734717

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

AU3190305

chr5:
11558593-11558593

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

1-0201-005

chr5:
12182328-12182328

C

T

intergenic

De novo

-

Yuen2017 G

CTNND2

300449

chr5:
11412182-11412183

CT

T

splicing

Inherited

splicing

-

Stessman2017 T

CTNND2

AU009904

chr5:
11244201-11244201

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

2-1605-004

chr5:
11603202-11603202

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

1-0568-003

chr5:
12502990-12502990

T

C

intergenic

De novo

-

Yuen2017 G

CTNND2

AU3900301

chr5:
11345118-11345118

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

05C50297

chr5:
11111014-11111014

C

T

exonic

Paternal

nonsynonymous SNV

NM_001288716
NM_001288715
NM_001288717
NM_001332

c.G1408A
c.G2146A
c.G1120A
c.G2419A

p.G470R
p.G716R
p.G374R
p.G807R

32.0

-

Stessman2017 T

CTNND2

5-0137-003

chr5:
12316702-12316702

A

C

intergenic

De novo

-

Yuen2017 G

CTNND2

AU3702307

chr5:
11723781-11723781

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

AU3790302

chr5:
11090080-11090080

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CTNND2

2-1280-003

chr5:
12102299-12102299

T

C

intergenic

De novo

-

Yuen2017 G

CTNND2

1-0009-004

chr5:
12253820-12253820

A

G

intergenic

De novo

-

Yuen2017 G

CTNND2

M15228

chr5:
11098857-11098857

C

T

exonic

Paternal

nonsynonymous SNV

NM_001288716
NM_001288715
NM_001288717
NM_001332

c.G1456A
c.G2194A
c.G1168A
c.G2467A

p.D486N
p.D732N
p.D390N
p.D823N

32.0

-

Guo2018 T
Wang2016 T

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
	More