Variant Results

or

Results for "CTNNA3"

Variant Events: 95

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

CTNNA3

2-1160-003

chr10:
69348785-69348785

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CTNNA3

2-1371-003

chr10:
69457905-69457905

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CTNNA3

A6

chr10:
67793267-67793267

T

C

intronic

De novo

-

Wu2018 G

CTNNA3

A6

chr10:
68266538-68266538

T

C

intronic

De novo

-

Wu2018 G

CTNNA3

1-0467-005

chr10:
69108967-69108967

T

C

intronic

De novo

-

Yuen2017 G

CTNNA3

1-0553-003

chr10:
68118939-68118941

CTT

C

intronic

De novo

-

Yuen2017 G

CTNNA3

7-0024-005

chr10:
68920411-68920411

T

A

intronic

De novo

-

Yuen2017 G

CTNNA3

AU3052302

chr10:
68959441-68959441

T

C

intronic

De novo

-

Yuen2017 G

CTNNA3

1-0225-003

chr10:
69094781-69094798

TACACACACACACACACA

TACACACACACACACA

intronic

De novo

-

Yuen2017 G

CTNNA3

AU3874302

chr10:
69225140-69225146

AAGAGAG

AAGAG

intronic

De novo

-

Yuen2017 G

CTNNA3

1-0806-003

chr10:
68259316-68259316

G

C

intronic

De novo

-

Yuen2017 G

CTNNA3

EGAN00001101388

chr10:
68940119-68940119

T

C

exonic

De novo

nonsynonymous SNV

NM_001127384
NM_013266
NM_001291133

c.A1003G
c.A1003G
c.A1039G

p.I335V
p.I335V
p.I347V

12.06

8.247E-6

Fu2022 E
Satterstrom2020 E

CTNNA3

1-0985-003

chr10:
68155792-68155792

G

T

intronic

De novo

-

Yuen2017 G

CTNNA3

1-0286-004

chr10:
67927828-67927828

C

T

intronic

De novo

-

Yuen2017 G

CTNNA3

13539.p1

chr10:
68208612-68208612

T

G

intronic

De novo

-

Turner2016 G

CTNNA3

1-0045-004

chr10:
67768085-67768085

G

C

intronic

De novo

-

Yuen2017 G

CTNNA3

2-0297-004

chr10:
68996186-68996186

G

T

intronic

De novo

-

Yuen2017 G

CTNNA3

AU2029301

chr10:
68130729-68130729

C

T

intronic

De novo

-

Yuen2017 G

CTNNA3

AU3725302

chr10:
68588173-68588173

T

C

intronic

De novo

-

Yuen2017 G

CTNNA3

AU4093302

chr10:
67859099-67859099

G

T

intronic

De novo

-

Yuen2017 G

CTNNA3

7-0273-003

chr10:
68298891-68298891

A

G

intronic

De novo

-

Yuen2017 G

CTNNA3

1-0441-003

chr10:
68499009-68499009

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CTNNA3

2-0319-003

chr10:
69507666-69507666

G

T

intergenic

De novo

-

Yuen2017 G

CTNNA3

5-0018-003

chr10:
67762619-67762619

C

T

intronic

De novo

-

Yuen2017 G

CTNNA3

AU4234302

chr10:
67810768-67810768

T

C

intronic

De novo

-

Yuen2017 G

CTNNA3

A16

chr10:
68270835-68270835

T

C

intronic

De novo

-

Wu2018 G

CTNNA3

2-1148-004

chr10:
68016584-68016584

C

T

intronic

De novo

-

Yuen2017 G

CTNNA3

2-1297-003

chr10:
68123596-68123596

G

A

intronic

De novo

-

Yuen2017 G

CTNNA3

AU047904

chr10:
68268291-68268295

CTTTT

CTTT

intronic

De novo

-

Yuen2017 G

CTNNA3

5-0014-004

chr10:
68302188-68302188

G

A

intronic

De novo

-

Yuen2017 G

CTNNA3

AU076509

chr10:
69109083-69109083

G

A

intronic

De novo

-

Yuen2017 G

CTNNA3

5-0017-004

chr10:
67892037-67892037

G

A

intronic

De novo

-

Yuen2017 G

CTNNA3

AU057405

chr10:
67839149-67839154

TATAAT

TAT

intronic

De novo

-

Yuen2017 G

CTNNA3

AU075703

chr10:
67855923-67855923

T

A

intronic

De novo

-

Yuen2017 G

CTNNA3

1-0668-003

chr10:
69275881-69275881

C

T

intronic

De novo

-

Yuen2017 G

CTNNA3

2-1195-003

chr10:
67917241-67917255

ATAGATATGTAGATA

ATAGATA

intronic

De novo

-

Yuen2017 G

CTNNA3

SSC09521

chr10:
68535201-68535201

C

A

splicing

De novo

splicing

23.1

-

Fu2022 E

CTNNA3

2-1268-003

chr10:
68240083-68240083

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CTNNA3

3-0482-000

chr10:
69047639-69047639

A

G

intronic

De novo

-

Yuen2017 G

CTNNA3

AU075207

chr10:
68787056-68787056

T

C

intronic

De novo

-

Yuen2017 G

CTNNA3

2-1066-004

chr10:
69241205-69241205

A

G

intronic

De novo

-

Yuen2017 G

CTNNA3

2-0033-003

chr10:
69102658-69102658

T

A

intronic

De novo

-

Yuen2017 G

CTNNA3

5-0111-003

chr10:
68780048-68780048

C

T

intronic

De novo

-

Yuen2017 G

CTNNA3

1-0046-003

chr10:
67704608-67704615

ATCTGTCT

ATCT

intronic

De novo

-

Yuen2017 G

CTNNA3

2-0256-004

chr10:
67995760-67995760

G

A

intronic

De novo

-

Yuen2017 G

CTNNA3

A19

chr10:
68513227-68513227

T

A

intronic

De novo

-

Wu2018 G

CTNNA3

2-1250-003

chr10:
68014792-68014792

C

T

intronic

De novo

-

Yuen2017 G

CTNNA3

AU024104

chr10:
69147520-69147520

G

C

intronic

De novo

-

Yuen2017 G

CTNNA3

2-1306-003

chr10:
69316776-69316776

T

C

intronic

De novo

-

Yuen2017 G

CTNNA3

1-0330-003

chr10:
69015625-69015625

C

A

intronic

De novo

-

Yuen2017 G

CTNNA3

AU012804

chr10:
68070691-68070691

C

T

intronic

De novo

-

Yuen2017 G

CTNNA3

AU038204

chr10:
69111318-69111318

T

A

intronic

De novo

-

Yuen2017 G

CTNNA3

AU3794301

chr10:
68380862-68380862

T

C

intronic

De novo

-

Yuen2017 G

CTNNA3

2-1689-003

chr10:
68460087-68460087

C

T

intronic

De novo

-

Yuen2017 G

CTNNA3

AU030104

chr10:
68604063-68604063

C

A

intronic

De novo

-

Yuen2017 G

CTNNA3

2-1129-003

chr10:
68977444-68977444

A

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CTNNA3

AU4228301

chr10:
68881292-68881298

ATGGCTG

ATG

intronic

De novo

-

Yuen2017 G

CTNNA3

1-0203-004

chr10:
68323951-68323951

G

A

intronic

De novo

-

Yuen2017 G

CTNNA3

1-0683-003

chr10:
68838014-68838021

AAAGACTT

A

intronic

De novo

-

Yuen2017 G

CTNNA3

2-0289-004

chr10:
69098812-69098817

ATGAAT

A

intronic

De novo

-

Yuen2017 G

CTNNA3

AU053503

chr10:
69344791-69344791

G

A

intronic

De novo

-

Yuen2017 G

CTNNA3

14051.p1

chr10:
69366755-69366755

C

G

exonic

Mosaic

nonsynonymous SNV

NM_001127384
NM_013266
NM_001291133

c.G152C
c.G152C
c.G188C

p.R51P
p.R51P
p.R63P

25.4

-

Krupp2017 E

CTNNA3

AU3724301

chr10:
69009161-69009161

A

G

intronic

De novo

-

Yuen2017 G

CTNNA3

AU3646301

chr10:
68321784-68321784

T

C

intronic

De novo

-

Yuen2017 G

CTNNA3

2-1105-003

chr10:
68585612-68585612

G

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CTNNA3

7-0128-003

chr10:
67893179-67893179

A

G

intronic

De novo

-

Yuen2017 G

CTNNA3

AU3371302

chr10:
67871013-67871013

T

C

intronic

De novo

-

Yuen2017 G

CTNNA3

AU4153301

chr10:
68486560-68486560

A

C

intronic

De novo

-

Yuen2017 G

CTNNA3

AU1795303

chr10:
68220662-68220662

C

T

intronic

De novo

-

Yuen2017 G

CTNNA3

AU3912303

chr10:
69109816-69109816

G

A

intronic

De novo

-

Yuen2017 G

CTNNA3

SP0008702

chr10:
68940102-68940102

C

T

exonic

De novo

synonymous SNV

NM_001127384
NM_013266
NM_001291133

c.G1020A
c.G1020A
c.G1056A

p.Q340Q
p.Q340Q
p.Q352Q

-

Fu2022 E

CTNNA3

1-0756-003

chr10:
68302188-68302188

G

A

intronic

De novo

-

Yuen2017 G

CTNNA3

1-0994-003

chr10:
69018982-69018982

C

A

intronic

De novo

-

Yuen2017 G

CTNNA3

1-0032-003

chr10:
69384783-69384783

C

G

intronic

De novo

-

Yuen2017 G

CTNNA3

2-1350-004

chr10:
68182021-68182021

T

C

intronic

De novo

-

Yuen2017 G

CTNNA3

A27

chr10:
68550727-68550727

G

C

intronic

De novo

-

Wu2018 G

CTNNA3

13829.p1

chr10:
68535201-68535201

C

A

splicing

De novo

splicing

23.1

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

CTNNA3

2-0045-003

chr10:
68296819-68296819

A

C

intronic

De novo

-

Yuen2017 G

CTNNA3

7-0175-003

chr10:
68077111-68077111

A

G

intronic

De novo

-

Yuen2017 G

CTNNA3

AU4164301

chr10:
69284615-69284615

G

A

intronic

De novo

-

Yuen2017 G

CTNNA3

AU4463303

chr10:
68029548-68029548

A

G

intronic

De novo

-

Yuen2017 G

CTNNA3

AU3779304

chr10:
67687099-67687099

G

A

intronic

De novo

-

Yuen2017 G

CTNNA3

AU024004

chr10:
67955739-67955739

C

G

intronic

De novo

-

Yuen2017 G

CTNNA3

3-0434-000

chr10:
69225278-69225278

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CTNNA3

2-0286-003

chr10:
68571487-68571487

C

T

intronic

De novo

-

Yuen2017 G

CTNNA3

1-0303-004

chr10:
68985232-68985232

C

A

intronic

De novo

-

Yuen2017 G

CTNNA3

3-0307-000

chr10:
67903342-67903342

G

A

intronic

De novo

-

Yuen2017 G

CTNNA3

1-0295-003

chr10:
68044615-68044615

G

A

intronic

De novo

-

Yuen2017 G

CTNNA3

AU030103

chr10:
68604063-68604063

C

A

intronic

De novo

-

Yuen2017 G

CTNNA3

AU2089301

chr10:
68873426-68873426

G

A

intronic

De novo

-

Yuen2017 G

CTNNA3

2-0022-004

chr10:
69002517-69002517

G

A

intronic

De novo

-

Yuen2017 G

CTNNA3

1-0841-003

chr10:
68059357-68059357

T

A

intronic

De novo

-

Yuen2017 G

CTNNA3

2-1252-003

chr10:
68107578-68107578

T

C

intronic

De novo

-

Yuen2017 G

CTNNA3

2-1434-003

chr10:
69315713-69315713

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CTNNA3

1-0458-005

chr10:
69221717-69221717

T

G

intronic

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
	More