Variant Results

or

Results for "CTNNA2"

Variant Events: 103

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

CTNNA2

2-0310-004

chr2:
80123193-80123193

G

A

intronic

De novo

-

Yuen2017 G

CTNNA2

AU4452302

chr2:
80862488-80862488

T

C

intronic

De novo

-

Yuen2017 G

CTNNA2

1-0352-005

chr2:
80874634-80874634

C

T

intronic

De novo

-

Yuen2017 G

CTNNA2

7-0253-003

chr2:
81599436-81599436

A

G

intergenic

De novo

-

Yuen2017 G

CTNNA2

2-0309-004

chr2:
79846098-79846098

G

C

intronic

De novo

-

Yuen2017 G

CTNNA2

13692.p1

chr2:
81308236-81308236

C

G

intergenic

De novo

-

Werling2018 G

CTNNA2

2-0309-004

chr2:
80591223-80591223

G

A

intronic

De novo

-

Yuen2017 G

CTNNA2

AU002903

chr2:
80290256-80290256

C

T

intronic

De novo

-

Yuen2017 G

CTNNA2

7-0248-003

chr2:
81357232-81357232

A

G

intergenic

De novo

-

Yuen2017 G

CTNNA2

1-0556-003

chr2:
80397355-80397360

CTCTGT

CT

intronic

De novo

-

Yuen2017 G

CTNNA2

2-1356-003

chr2:
80402822-80402822

G

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CTNNA2

AU054304

chr2:
80791429-80791429

C

T

intronic

De novo

-

Yuen2017 G

CTNNA2

1-0534-006

chr2:
81247359-81247368

GTGAGTTATT

G

intergenic

De novo

-

Yuen2017 G

CTNNA2

1-0054-004

chr2:
80852486-80852486

T

A

intronic

De novo

-

Yuen2017 G

CTNNA2

AU2075301

chr2:
80808939-80808939

G

A

exonic

De novo

nonsynonymous SNV

NM_001282599
NM_001282600
NM_001164883
NM_001282597
NM_001282598
NM_004389

c.G1039A
c.G898A
c.G2002A
c.G2002A
c.G2104A
c.G2002A

p.A347T
p.A300T
p.A668T
p.A668T
p.A702T
p.A668T

21.3

8.351E-6

Yuen2017 G

CTNNA2

AU4067303

chr2:
79967396-79967396

A

G

intronic

De novo

-

Yuen2017 G

CTNNA2

2-1415-004

chr2:
79960221-79960221

C

G

intronic

De novo

-

Yuen2017 G

CTNNA2

2-1505-004

chr2:
80731656-80731656

G

A

intronic

De novo

-

Yuen2017 G

CTNNA2

2-1381-003

chr2:
80196330-80196330

C

A

intronic

De novo

-

Yuen2017 G

CTNNA2

2-0289-004

chr2:
79865651-79865651

C

T

intronic

De novo

-

Yuen2017 G

CTNNA2

2-1429-003

chr2:
80890963-80890963

C

T

intergenic

De novo

-

Yuen2017 G

CTNNA2

AU072505

chr2:
80880003-80880003

C

G

intergenic

De novo

-

Yuen2017 G

CTNNA2

5-0015-004

chr2:
79789019-79789019

T

C

intronic

De novo

-

Yuen2017 G

CTNNA2

2-1317-003

chr2:
80397925-80397925

G

A

intronic

De novo

-

Yuen2017 G

CTNNA2

1-0609-003

chr2:
81235327-81235327

C

G

intergenic

De novo

-

Yuen2017 G

CTNNA2

A10

chr2:
81384457-81384457

G

A

intergenic

De novo

-

Wu2018 G

CTNNA2

1-0701-003

chr2:
80747044-80747044

G

A

intronic

De novo

-

Yuen2017 G

CTNNA2

7-0082-003

chr2:
81494582-81494582

A

G

intergenic

De novo

-

Yuen2017 G

CTNNA2

AU1860302

chr2:
79907163-79907163

G

C

intronic

De novo

-

Yuen2017 G

CTNNA2

AU1940304

chr2:
80576963-80576963

C

T

intronic

De novo

-

Yuen2017 G

CTNNA2

AU1940304

chr2:
80603745-80603745

A

G

intronic

De novo

-

Yuen2017 G

CTNNA2

1-0274-004

chr2:
80503886-80503886

A

G

intronic

De novo

-

Yuen2017 G

CTNNA2

7-0127-003

chr2:
81385865-81385865

G

T

intergenic

De novo

-

Yuen2017 G

CTNNA2

AU057503

chr2:
80782264-80782264

T

G

intronic

De novo

-

Yuen2017 G

CTNNA2

2-0242-003

chr2:
80183979-80183979

T

TC

intronic

De novo

-

Yuen2017 G

CTNNA2

2-1368-003

chr2:
80442752-80442752

C

T

intronic

De novo

-

Yuen2016 G

CTNNA2

2-1169-003

chr2:
81187192-81187192

C

T

intergenic

De novo

-

Yuen2017 G

CTNNA2

AU4343302

chr2:
81207226-81207226

T

G

intergenic

De novo

-

Yuen2017 G

CTNNA2

1-0509-003

chr2:
80319225-80319225

T

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CTNNA2

1-0153-004

chr2:
80138581-80138585

CTAAA

C

intronic

De novo

-

Yuen2017 G

CTNNA2

1-0352-003

chr2:
80874634-80874634

C

T

intronic

De novo

-

Yuen2016 G

CTNNA2

2-1223-003

chr2:
80781360-80781373

CTCTTTCTTTCTTT

CTCTTTCTTT

intronic

De novo

-

Yuen2017 G

CTNNA2

2-1353-003

chr2:
80923746-80923746

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CTNNA2

AU051504

chr2:
81655955-81655978

TTCCACTCCACTCCACTCCACTCC

TTCCACTCCACTCCACTCC

intergenic

De novo

-

Yuen2017 G

CTNNA2

AU017703

chr2:
80228195-80228195

G

A

intronic

De novo

-

Yuen2017 G

CTNNA2

2-1365-003

chr2:
80439435-80439435

A

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CTNNA2

AU027506

chr2:
81514152-81514152

A

T

intergenic

De novo

-

Yuen2017 G

CTNNA2

AU2437302

chr2:
79874777-79874777

G

A

intronic

De novo

-

Yuen2017 G

CTNNA2

1-0201-004

chr2:
81219019-81219019

C

A

intergenic

De novo

-

Yuen2017 G

CTNNA2

7-0161-003

chr2:
79902770-79902770

C

T

intronic

De novo

-

Yuen2017 G

CTNNA2

1-0373-003

chr2:
80471272-80471272

T

C

intronic

De novo

-

Yuen2017 G

CTNNA2

7-0253-004

chr2:
81668725-81668725

C

T

intergenic

De novo

-

Yuen2017 G

CTNNA2

1-0572-003

chr2:
80502839-80502856

AAGAGAGAGAGAGAGAGA

AAGAGAGAGAGAGAGA

intronic

De novo

-

Yuen2017 G

CTNNA2

5-0133-003

chr2:
80111874-80111874

A

G

intronic

De novo

-

Yuen2017 G

CTNNA2

AU2793301

chr2:
81205696-81205696

C

T

intergenic

De novo

-

Yuen2017 G

CTNNA2

2-1506-003

chr2:
80192819-80192819

G

A

intronic

De novo

-

Yuen2017 G

CTNNA2

5-0106-003

chr2:
80759820-80759820

G

T

intronic

De novo

-

Yuen2017 G

CTNNA2

AU4310301

chr2:
80836904-80836904

C

T

intronic

De novo

-

Yuen2017 G

CTNNA2

AU4444304

chr2:
80733464-80733466

AGG

AG

intronic

De novo

-

Yuen2017 G

CTNNA2

1-0551-003

chr2:
80938915-80938915

T

C

intergenic

De novo

-

Yuen2017 G

CTNNA2

AU063004

chr2:
80963901-80963901

T

C

intergenic

De novo

-

Yuen2017 G

CTNNA2

1-0285-004

chr2:
79763808-79763808

T

TG

intronic

De novo

-

Yuen2017 G

CTNNA2

AU4429301

chr2:
80223480-80223480

A

G

intronic

De novo

-

Yuen2017 G

CTNNA2

1-0595-005

chr2:
80935753-80935753

C

T

intergenic

De novo

-

Yuen2017 G

CTNNA2

2-1292-004

chr2:
80565597-80565597

A

T

intronic

De novo

-

Yuen2017 G

CTNNA2

2-1341-004

chr2:
80565095-80565101

AGAAAGG

A

intronic

De novo

-

Yuen2017 G

CTNNA2

7-0171-003

chr2:
81165209-81165209

G

C

intergenic

De novo

-

Yuen2017 G

CTNNA2

AU3801301

chr2:
79752430-79752430

G

A

intronic

De novo

-

Yuen2017 G

CTNNA2

1-0347-003

chr2:
81253845-81253845

T

G

intergenic

De novo

-

Yuen2017 G

CTNNA2

AU011704

chr2:
80847448-80847448

C

T

intronic

De novo

-

Yuen2017 G

CTNNA2

1-0303-004

chr2:
81636151-81636151

C

G

intergenic

De novo

-

Yuen2017 G

CTNNA2

1-0303-004

chr2:
80836168-80836168

T

C

intronic

De novo

-

Yuen2017 G

CTNNA2

AU2293301

chr2:
79897561-79897561

G

C

intronic

De novo

-

Yuen2017 G

CTNNA2

AU4067301

chr2:
79890310-79890310

G

T

intronic

De novo

-

Yuen2017 G

CTNNA2

1-0446-003

chr2:
81360630-81360630

A

G

intergenic

De novo

-

Yuen2017 G

CTNNA2

2-1169-004

chr2:
80614090-80614090

G

A

intronic

De novo

-

Yuen2017 G

CTNNA2

2-1252-003

chr2:
80765014-80765014

G

A

intronic

De novo

-

Yuen2017 G

CTNNA2

AU3399302

chr2:
80258646-80258646

C

T

intronic

De novo

-

Yuen2017 G

CTNNA2

2-1169-004

chr2:
80902387-80902387

G

T

intergenic

De novo

-

Yuen2017 G

CTNNA2

AU3951302

chr2:
80362451-80362451

G

A

intronic

De novo

-

Yuen2017 G

CTNNA2

1-0079-008

chr2:
80183979-80183979

T

TC

intronic

De novo

-

Yuen2017 G

CTNNA2

1-0104-004

chr2:
80087680-80087680

T

TGTTTTG

intronic

De novo

-

Yuen2017 G

CTNNA2

AU1995302

chr2:
80712398-80712398

G

C

intronic

De novo

-

Yuen2017 G

CTNNA2

AU1995302

chr2:
81009473-81009473

C

A

intergenic

De novo

-

Yuen2017 G

CTNNA2

74-0117

chr2:
80847448-80847448

C

T

intronic

De novo

-

Michaelson2012 G

CTNNA2

AU2793302

chr2:
80830540-80830540

T

C

intronic

De novo

-

Yuen2017 G

CTNNA2

74-0355

chr2:
81033108-81033108

G

A

intergenic

De novo

-

Michaelson2012 G

CTNNA2

1-0274-003

chr2:
80503886-80503886

A

G

intronic

De novo

-

Yuen2017 G

CTNNA2

5-0137-003

chr2:
81485065-81485065

A

C

intergenic

De novo

-

Yuen2017 G

CTNNA2

1-0751-003

chr2:
80552983-80552983

T

C

intronic

De novo

-

Yuen2017 G

CTNNA2

2-1148-004

chr2:
80979029-80979029

A

G

intergenic

De novo

-

Yuen2017 G

CTNNA2

12680.p1

chr2:
79808864-79808864

G

A

intronic

De novo

-

Turner2016 G

CTNNA2

5-0055-003

chr2:
81623749-81623749

C

T

intergenic

De novo

-

Yuen2017 G

CTNNA2

AU2129301

chr2:
80552017-80552017

C

T

intronic

De novo

-

Yuen2017 G

CTNNA2

13874.p1

chr2:
81238399-81238399

A

C

intergenic

De novo

-

Turner2016 G

CTNNA2

AU3790302

chr2:
80357291-80357291

G

A

intronic

De novo

-

Yuen2017 G

CTNNA2

1-0708-003

chr2:
81660777-81660777

T

A

intergenic

De novo

-

Yuen2017 G

CTNNA2

7-0192-003

chr2:
81240435-81240435

T

C

intergenic

De novo

-

Yuen2017 G

CTNNA2

1-0597-003

chr2:
81299201-81299201

T

C

intergenic

De novo

-

Yuen2017 G

CTNNA2

AU2029301

chr2:
81372349-81372349

A

G

intergenic

De novo

-

Yuen2017 G

CTNNA2

AU3343301

chr2:
81069729-81069729

G

A

intergenic

De novo

-

Yuen2017 G

CTNNA2

AU024607

chr2:
81045531-81045531

A

T

intergenic

De novo

-

Yuen2017 G

CTNNA2

AU3343301

chr2:
81465243-81465243

A

G

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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