Variant Results

or

Results for "WWOX"

Variant Events: 165

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

WWOX

AU2569301

chr16:
79040927-79040927

G

C

intronic

De novo

-

Yuen2017 G

WWOX

12937.p1

chr16:
78441213-78441213

C

G

intronic

De novo

-

Wilfert2021 G

WWOX

2-1261-003

chr16:
79604557-79604557

G

A

intergenic

De novo

-

Yuen2017 G

WWOX

2-1313-003

chr16:
79037664-79037664

C

G

intronic

De novo

-

Yuen2017 G

WWOX

2-1297-004

chr16:
78792011-78792011

A

AAT

intronic

De novo

-

Yuen2017 G

WWOX

1-0885-003

chr16:
79027051-79027051

A

G

intronic

De novo

-

Yuen2017 G

WWOX

2-0289-003

chr16:
78692921-78692921

A

G

intronic

De novo

-

Yuen2017 G

WWOX

AU066104

chr16:
78604634-78604634

A

C

intronic

De novo

-

Yuen2017 G

WWOX

1-0079-008

chr16:
78692834-78692834

C

CA

intronic

De novo

-

Yuen2017 G

WWOX

1-0606-003

chr16:
78394924-78394924

T

C

intronic

De novo

-

Yuen2017 G

WWOX

AU2117302

chr16:
78285595-78285595

A

T

intronic

De novo

-

Yuen2017 G

WWOX

2-1430-003

chr16:
79446516-79446516

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

WWOX

AU3865301

chr16:
78497091-78497091

A

G

intronic

De novo

-

Yuen2017 G

WWOX

12680.p1

chr16:
78379641-78379641

T

C

intronic

De novo

-

Turner2016 G

WWOX

PN400434

chr16:
78149000-78149000

C

T

exonic

Unknown

nonsynonymous SNV

NM_001291997
NM_016373
NM_130791

c.C19T
c.C358T
c.C358T

p.R7W
p.R120W
p.R120W

22.6

0.0076

Leblond2019 E

WWOX

2-1210-003

chr16:
78692980-78692980

A

C

intronic

De novo

-

Yuen2017 G

WWOX

7-0024-005

chr16:
78654945-78654945

G

C

intronic

De novo

-

Yuen2017 G

WWOX

AU4242302

chr16:
78392024-78392024

T

G

intronic

De novo

-

Yuen2017 G

WWOX

2-0018-004

chr16:
78970191-78970191

G

T

intronic

De novo

-

Yuen2017 G

WWOX

13023.p1

chr16:
78382239-78382239

A

G

intronic

De novo

-

Turner2016 G

WWOX

1-0493-003

chr16:
79130065-79130065

A

C

intronic

De novo

-

Yuen2017 G

WWOX

12175.p1

chr16:
79541121-79541121

T

C

intergenic

De novo

-

Turner2016 G

WWOX

5-0015-003

chr16:
79301278-79301278

C

A

intergenic

De novo

-

Yuen2017 G

WWOX

2-1370-003

chr16:
78969308-78969308

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

WWOX

2-1702-003

chr16:
79603603-79603609

GATGCCT

G

intergenic

De novo

-

Yuen2017 G

WWOX

1-0408-003

chr16:
79211113-79211113

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

WWOX

2-1391-004

chr16:
78748556-78748556

A

G

intronic

De novo

-

Yuen2017 G

WWOX

AU4283301

chr16:
79465033-79465033

T

C

intergenic

De novo

-

Yuen2017 G

WWOX

2-1370-003

chr16:
79336110-79336110

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

WWOX

AU1995302

chr16:
78327562-78327562

T

G

intronic

De novo

-

Yuen2017 G

WWOX

AU1698302

chr16:
78619162-78619162

C

G

intronic

De novo

-

Yuen2017 G

WWOX

2-0007-003

chr16:
79563307-79563307

G

A

intergenic

De novo

-

Yuen2017 G

WWOX

AU1698302

chr16:
78630207-78630207

C

T

intronic

De novo

-

Yuen2017 G

WWOX

AU1698302

chr16:
78639812-78639812

A

G

intronic

De novo

-

Yuen2017 G

WWOX

2-0142-004

chr16:
79363292-79363292

C

T

intergenic

De novo

-

Yuen2017 G

WWOX

7-0129-003

chr16:
79433516-79433516

G

A

intergenic

De novo

-

Yuen2017 G

WWOX

1-0971-003

chr16:
79224793-79224793

A

G

intronic

De novo

-

Yuen2017 G

WWOX

AU4033303

chr16:
78635266-78635266

G

T

intronic

De novo

-

Yuen2017 G

WWOX

AU4496301

chr16:
79334962-79334962

C

A

intergenic

De novo

-

Yuen2017 G

WWOX

PN400285

chr16:
79245892-79245897

GGGGCT

G

UTR3

Unknown

-

0.0075

Leblond2019 E

WWOX

1-0304-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

WWOX

AU063005

chr16:
78355622-78355626

GAGAA

GAGAAGAA

intronic

De novo

-

Yuen2017 G

WWOX

2-1737-003

chr16:
78133388-78133388

C

T

UTR5

De novo

-

Yuen2017 G

WWOX

PN400499

chr16:
78149000-78149000

C

T

exonic

Unknown

nonsynonymous SNV

NM_001291997
NM_016373
NM_130791

c.C19T
c.C358T
c.C358T

p.R7W
p.R120W
p.R120W

22.6

0.0076

Leblond2019 E

WWOX

AU057405

chr16:
78939816-78939819

TCCC

TCCCC

intronic

De novo

-

Yuen2017 G

WWOX

2-1322-004

chr16:
78920941-78920941

G

GA

intronic

De novo

-

Yuen2017 G

WWOX

2-1142-003

chr16:
79228244-79228244

A

G

intronic

De novo

-

Yuen2017 G

WWOX

2-1142-003

chr16:
79223406-79223406

C

G

intronic

De novo

-

Yuen2017 G

WWOX

AU3680302

chr16:
79466768-79466768

T

C

intergenic

De novo

-

Yuen2017 G

WWOX

2-1142-003

chr16:
79220722-79220722

C

G

intronic

De novo

-

Yuen2017 G

WWOX

2-1441-003

chr16:
79531531-79531531

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

WWOX

1-0751-003

chr16:
79025598-79025598

C

T

intronic

De novo

-

Yuen2017 G

WWOX

2-1339-003

chr16:
78674698-78674698

T

C

intronic

De novo

-

Yuen2017 G

WWOX

2-1511-003

chr16:
79133470-79133486

CGTGTGTGTGTGTGTGT

CGTGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

WWOX

AU1687302

chr16:
79421139-79421139

A

G

intergenic

De novo

-

Yuen2017 G

WWOX

AU1687302

chr16:
79592455-79592455

T

A

intergenic

De novo

-

Yuen2017 G

WWOX

AU2108302

chr16:
79608690-79608690

G

A

intergenic

De novo

-

Yuen2017 G

WWOX

2-1425-004

chr16:
78537015-78537015

C

T

intronic

De novo

-

Yuen2017 G

WWOX

1-0671-003

chr16:
78833636-78833636

A

G

intronic

De novo

-

Yuen2017 G

WWOX

AU034904

chr16:
78272394-78272394

C

T

intronic

De novo

-

Yuen2017 G

WWOX

AU034904

chr16:
78598850-78598850

A

G

intronic

De novo

-

Yuen2017 G

WWOX

2-1364-003

chr16:
78875693-78875693

T

C

intronic

De novo

-

Yuen2017 G

WWOX

AU076508

chr16:
78675432-78675432

A

G

intronic

De novo

-

Yuen2017 G

WWOX

2-1117-003

chr16:
78936921-78936921

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

WWOX

1-0265-004

chr16:
78709601-78709601

G

T

intronic

De novo

-

Yuen2017 G

WWOX

1-0671-003

chr16:
78871748-78871748

A

T

intronic

De novo

-

Yuen2017 G

WWOX

AU060004

chr16:
79069159-79069159

C

G

intronic

De novo

-

Yuen2017 G

WWOX

AU3858303

chr16:
78813531-78813531

G

C

intronic

De novo

-

Yuen2017 G

WWOX

12228.p1

chr16:
79245677-79245677

G

C

exonic

De novo

nonsynonymous SNV

NM_001291997
NM_016373

c.G890C
c.G1229C

p.G297A
p.G410A

16.09

2.0E-4

Ji2016 E
Krumm2015 E

WWOX

AU4473301

chr16:
79256944-79256944

G

A

intergenic

De novo

-

Yuen2017 G

WWOX

2-1509-003

chr16:
78983182-78983182

C

T

intronic

De novo

-

Yuen2017 G

WWOX

AU049304

chr16:
78674548-78674548

A

G

intronic

De novo

-

Yuen2017 G

WWOX

5-0050-004

chr16:
78272124-78272124

A

G

intronic

De novo

-

Yuen2017 G

WWOX

1-0400-003

chr16:
79482827-79482827

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

WWOX

1-0325-003

chr16:
78489842-78489842

G

C

intronic

De novo

-

Yuen2017 G

WWOX

1-0075-003

chr16:
79595533-79595533

G

A

intergenic

De novo

-

Yuen2017 G

WWOX

AU2495302

chr16:
78625435-78625435

A

T

intronic

De novo

-

Yuen2017 G

WWOX

AU3808305

chr16:
78630549-78630549

A

T

intronic

De novo

-

Yuen2017 G

WWOX

PN400111

chr16:
78149000-78149000

C

T

exonic

Unknown

nonsynonymous SNV

NM_001291997
NM_016373
NM_130791

c.C19T
c.C358T
c.C358T

p.R7W
p.R120W
p.R120W

22.6

0.0076

Leblond2019 E

WWOX

iHART2577

chr16:
78458953-78458953

G

C

splicing

Paternal

splicing

17.17

-

Ruzzo2019 G

WWOX

iHART2614

chr16:
78143716-78143716

C

T

exonic

Paternal

stopgain

NM_016373
NM_130791

c.C214T
c.C214T

p.Q72X
p.Q72X

37.0

4.14E-5

Ruzzo2019 G

WWOX

PN400514

chr16:
78149000-78149000

C

T

exonic

Unknown

nonsynonymous SNV

NM_001291997
NM_016373
NM_130791

c.C19T
c.C358T
c.C358T

p.R7W
p.R120W
p.R120W

22.6

0.0076

Leblond2019 E

WWOX

2-1475-003

chr16:
79136852-79136852

C

G

intronic

De novo

-

Yuen2017 G

WWOX

PN400121

chr16:
78149000-78149000

C

T

exonic

Unknown

nonsynonymous SNV

NM_001291997
NM_016373
NM_130791

c.C19T
c.C358T
c.C358T

p.R7W
p.R120W
p.R120W

22.6

0.0076

Leblond2019 E

WWOX

1-0636-003

chr16:
78973170-78973170

C

G

intronic

De novo

-

Yuen2017 G

WWOX

7-0059-003

chr16:
78692726-78692726

T

C

intronic

De novo

-

Yuen2017 G

WWOX

7-0082-003

chr16:
78137988-78137988

G

A

intronic

De novo

-

Yuen2017 G

WWOX

1-0405-003

chr16:
78300022-78300022

G

T

intronic

De novo

-

Yuen2017 G

WWOX

1-0994-003

chr16:
78800671-78800671

C

G

intronic

De novo

-

Yuen2017 G

WWOX

7-0097-003

chr16:
79182116-79182116

T

A

intronic

De novo

-

Yuen2017 G

WWOX

1-0744-003

chr16:
79040943-79040943

C

A

intronic

De novo

-

Yuen2017 G

WWOX

AU2975301

chr16:
78819759-78819759

T

C

intronic

De novo

-

Yuen2017 G

WWOX

2-1276-003

chr16:
78800349-78800349

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

WWOX

AU2089302

chr16:
78520853-78520853

T

C

intronic

De novo

-

Yuen2017 G

WWOX

AU0039303

chr16:
79239744-79239744

G

A

intronic

De novo

-

Yuen2017 G

WWOX

1-0674-004

chr16:
78570818-78570818

T

C

intronic

De novo

-

Yuen2017 G

WWOX

2-0278-003

chr16:
78496517-78496517

G

A

intronic

De novo

-

Yuen2017 G

WWOX

2-1292-003

chr16:
78521018-78521018

T

C

intronic

De novo

-

Yuen2017 G

WWOX

2-0278-003

chr16:
78492114-78492114

C

G

intronic

De novo

-

Yuen2017 G

WWOX

2-1397-003

chr16:
79015680-79015680

G

T

intronic

De novo

-

Yuen2017 G

WWOX

7-0130-003

chr16:
79291234-79291234

C

T

intergenic

De novo

-

Yuen2017 G

WWOX

A11

chr16:
78346972-78346972

A

T

intronic

De novo

-

Wu2018 G

WWOX

2-0013-003

chr16:
78272555-78272555

T

C

intronic

De novo

-

Yuen2017 G

WWOX

74-0355

chr16:
79149665-79149665

A

C

intronic

De novo

-

Michaelson2012 G

WWOX

74-0352

chr16:
79622780-79622780

C

T

intergenic

De novo

-

Michaelson2012 G

WWOX

80001101216

chr16:
79245803-79245803

T

G

UTR3

De novo

15.13

-

Satterstrom2020 E

WWOX

AU1687303

chr16:
79421139-79421139

A

G

intergenic

De novo

-

Yuen2017 G

WWOX

2-0214-003

chr16:
78463728-78463728

G

A

intronic

De novo

-

Yuen2017 G

WWOX

1-0024-003

chr16:
78446095-78446095

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

WWOX

5-0065-003

chr16:
79023168-79023168

A

G

intronic

De novo

-

Yuen2017 G

WWOX

2-1382-003

chr16:
79182024-79182024

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

WWOX

1-0045-004

chr16:
78939641-78939641

A

T

intronic

De novo

-

Yuen2017 G

WWOX

AU1687303

chr16:
79592455-79592455

T

A

intergenic

De novo

-

Yuen2017 G

WWOX

1-0045-004

chr16:
78904070-78904070

C

A

intronic

De novo

-

Yuen2017 G

WWOX

AU3794302

chr16:
79038789-79038789

G

C

intronic

De novo

-

Yuen2017 G

WWOX

2-1283-003

chr16:
79041460-79041460

A

G

intronic

De novo

-

Yuen2017 G

WWOX

2-1605-003

chr16:
78875246-78875246

A

C

intronic

De novo

-

Yuen2017 G

WWOX

PN400114

chr16:
78149000-78149000

C

T

exonic

Unknown

nonsynonymous SNV

NM_001291997
NM_016373
NM_130791

c.C19T
c.C358T
c.C358T

p.R7W
p.R120W
p.R120W

22.6

0.0076

Leblond2019 E

WWOX

AU4092302

chr16:
78270739-78270739

C

A

intronic

De novo

-

Yuen2017 G

WWOX

PN400517

chr16:
78149000-78149000

C

T

exonic

Unknown

nonsynonymous SNV

NM_001291997
NM_016373
NM_130791

c.C19T
c.C358T
c.C358T

p.R7W
p.R120W
p.R120W

22.6

0.0076

Leblond2019 E

WWOX

1-0863-003

chr16:
78947746-78947746

C

T

intronic

De novo

-

Yuen2017 G

WWOX

1-0161-003

chr16:
78315011-78315011

C

T

intronic

De novo

-

Yuen2017 G

WWOX

1-0898-003

chr16:
79018557-79018557

C

G

intronic

De novo

-

Yuen2017 G

WWOX

1-0668-003

chr16:
78355112-78355112

C

A

intronic

De novo

-

Yuen2017 G

WWOX

AU043804

chr16:
78825705-78825707

AGG

AGGG

intronic

De novo

-

Yuen2017 G

WWOX

09C82560

chr16:
79245541-79245541

G

A

exonic

De novo

nonsynonymous SNV

NM_001291997
NM_016373

c.G754A
c.G1093A

p.V252I
p.V365I

15.72

-

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E

WWOX

7-0254-004

chr16:
79174723-79174723

C

T

intronic

De novo

-

Yuen2017 G

WWOX

1-0304-003

chr16:
79342508-79342508

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

WWOX

1-0668-003

chr16:
78357667-78357667

T

G

intronic

De novo

-

Yuen2017 G

WWOX

AU2525302

chr16:
78936891-78936891

C

T

intronic

De novo

-

Yuen2017 G

WWOX

1-0395-003

chr16:
79109219-79109219

G

A

intronic

De novo

-

Yuen2017 G

WWOX

1-0675-003

chr16:
78805441-78805441

G

T

intronic

De novo

-

Yuen2017 G

WWOX

2-1429-004

chr16:
79335967-79335967

A

T

intergenic

De novo

-

Yuen2017 G

WWOX

1-0265-003

chr16:
78709601-78709601

G

T

intronic

De novo

-

Yuen2017 G

WWOX

2-1502-003

chr16:
78757511-78757516

TTTCTT

TTT

intronic

De novo

-

Yuen2017 G

WWOX

2-1525-003

chr16:
78874534-78874534

C

T

intronic

De novo

-

Yuen2017 G

WWOX

AU4429301

chr16:
78988446-78988446

T

C

intronic

De novo

-

Yuen2017 G

WWOX

AU2123302

chr16:
78153731-78153731

C

G

intronic

De novo

-

Yuen2017 G

WWOX

AU4429301

chr16:
78989035-78989035

G

A

intronic

De novo

-

Yuen2017 G

WWOX

1-0173-004

chr16:
78692726-78692726

T

C

intronic

De novo

-

Yuen2017 G

WWOX

2-1408-004

chr16:
79281639-79281639

T

C

intergenic

De novo

-

Yuen2017 G

WWOX

AU3862305

chr16:
78802311-78802311

A

G

intronic

De novo

-

Yuen2017 G

WWOX

1-0745-003

chr16:
79465060-79465060

C

T

intergenic

De novo

-

Yuen2017 G

WWOX

AU4273304

chr16:
78502889-78502889

C

G

intronic

De novo

-

Yuen2017 G

WWOX

AU059903

chr16:
79612575-79612575

G

A

intergenic

De novo

-

Yuen2017 G

WWOX

PN400297

chr16:
79245892-79245897

GGGGCT

G

UTR3

Unknown

-

0.0075

Leblond2019 E

WWOX

1-0150-003

chr16:
78792011-78792011

A

AAT

intronic

De novo

-

Yuen2017 G

WWOX

1-0300-003

chr16:
78969855-78969855

C

CA

intronic

De novo

-

Yuen2017 G

WWOX

PN400484

chr16:
78149000-78149000

C

T

exonic

Unknown

nonsynonymous SNV

NM_001291997
NM_016373
NM_130791

c.C19T
c.C358T
c.C358T

p.R7W
p.R120W
p.R120W

22.6

0.0076

Leblond2019 E

WWOX

AU4273304

chr16:
78495380-78495380

G

T

intronic

De novo

-

Yuen2017 G

WWOX

2-0028-003

chr16:
78967495-78967495

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

WWOX

AU4183301

chr16:
78876707-78876707

C

G

intronic

De novo

-

Yuen2017 G

WWOX

AU3646301

chr16:
78525942-78525942

G

C

intronic

De novo

-

Yuen2017 G

WWOX

PN400116

chr16:
78149000-78149000

C

T

exonic

Unknown

nonsynonymous SNV

NM_001291997
NM_016373
NM_130791

c.C19T
c.C358T
c.C358T

p.R7W
p.R120W
p.R120W

22.6

0.0076

Leblond2019 E

WWOX

2-1359-004

chr16:
79619185-79619185

C

G

intergenic

De novo

-

Yuen2017 G

WWOX

AU4089301

chr16:
79292935-79292943

TCTCCTCCT

TCTCCT

intergenic

De novo

-

Yuen2017 G

WWOX

PN400257

chr16:
78149000-78149000

C

T

exonic

Unknown

nonsynonymous SNV

NM_001291997
NM_016373
NM_130791

c.C19T
c.C358T
c.C358T

p.R7W
p.R120W
p.R120W

22.6

0.0076

Leblond2019 E

WWOX

PN400495

chr16:
78149000-78149000

C

T

exonic

Unknown

nonsynonymous SNV

NM_001291997
NM_016373
NM_130791

c.C19T
c.C358T
c.C358T

p.R7W
p.R120W
p.R120W

22.6

0.0076

Leblond2019 E

WWOX

AU4153301

chr16:
78762626-78762626

A

G

intronic

De novo

-

Yuen2017 G

WWOX

AU4153301

chr16:
78771629-78771629

C

G

intronic

De novo

-

Yuen2017 G

WWOX

7-0251-003

chr16:
78909614-78909614

C

T

intronic

De novo

-

Yuen2017 G

WWOX

2-1269-003

chr16:
79426432-79426432

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

WWOX

PN400431

chr16:
78149000-78149000

C

T

exonic

Unknown

nonsynonymous SNV

NM_001291997
NM_016373
NM_130791

c.C19T
c.C358T
c.C358T

p.R7W
p.R120W
p.R120W

22.6

0.0076

Leblond2019 E

WWOX

2-1283-004

chr16:
79041460-79041460

A

G

intronic

De novo

-

Yuen2017 G

WWOX

AU4463303

chr16:
78628827-78628827

G

C

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
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