Variant Results

or

Results for "ZBTB20"

Variant Events: 98

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

ZBTB20

3-0089-000

chr3:
114863399-114863399

T

C

intronic

De novo

-

Trost2022 G

ZBTB20

1-0105-003

chr3:
114771443-114771443

G

C

intronic

De novo

-

Trost2022 G

ZBTB20

MSSNG00083-003

chr3:
114782671-114782671

T

C

intronic

De novo

-

Trost2022 G

ZBTB20

7-0044-003

chr3:
114688882-114688882

G

A

intronic

De novo

-

Yuen2017 G

ZBTB20

MSSNG00414-003

chr3:
114682753-114682754

TA

T

intronic

De novo

-

Trost2022 G

ZBTB20

2-1360-003

chr3:
114783483-114783483

A

C

intronic

De novo

-

Yuen2017 G

ZBTB20

1-1049-003

chr3:
114761397-114761397

T

C

intronic

De novo

-

Trost2022 G

ZBTB20

1-0756-004

chr3:
114668352-114668352

T

C

intronic

De novo

-

Trost2022 G

ZBTB20

4-0090-003

chr3:
114669384-114669384

C

A

intronic

De novo

-

Trost2022 G

ZBTB20

AU034904

chr3:
114395599-114395599

T

A

intronic

De novo

-

Yuen2017 G

ZBTB20

1-0336-003

chr3:
115037042-115037042

G

T

intergenic

De novo

-

Yuen2017 G

ZBTB20

09C84847

chr3:
114070428-114070428

G

T

exonic

De novo

stopgain

NM_001164342
NM_001164346
NM_001164347
NM_001164345
NM_001164344
NM_015642
NM_001164343

c.C497A
c.C278A
c.C278A
c.C278A
c.C278A
c.C278A
c.C278A

p.S166X
p.S93X
p.S93X
p.S93X
p.S93X
p.S93X
p.S93X

39.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZBTB20

1-0119-004

chr3:
115176067-115176067

C

T

intergenic

De novo

-

Yuen2017 G

ZBTB20

AU3912301

chr3:
114750004-114750004

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

2-0210-005

chr3:
114428464-114428464

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

1-0440-003

chr3:
114914716-114914716

C

T

intergenic

De novo

-

Yuen2017 G

ZBTB20

1-0155-003

chr3:
114501072-114501081

ATTATATGGT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

AU3721301

chr3:
114062967-114062967

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

13069.p1

chr3:
114563235-114563235

G

C

intronic

De novo

-

Turner2016 G

ZBTB20

13023.p1

chr3:
114702089-114702089

T

G

intronic

De novo

-

Turner2016 G

ZBTB20

13649.p1

chr3:
114554416-114554416

C

T

intronic

De novo

-

Turner2016 G

ZBTB20

13874.p1

Complex Event; expand row to view variants

De novo

-

Turner2016 G
Turner2016 G

ZBTB20

AU066206

chr3:
114932682-114932682

G

A

intergenic

De novo

-

Yuen2017 G

ZBTB20

A19

chr3:
115064990-115064990

T

G

intergenic

De novo

-

Wu2018 G

ZBTB20

1-0935-003

chr3:
115229578-115229578

G

A

intergenic

De novo

-

Yuen2017 G

ZBTB20

AU2123301

chr3:
115217683-115217683

C

T

intergenic

De novo

-

Yuen2017 G

ZBTB20

AU3371302

chr3:
114566842-114566842

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

AU072505

chr3:
114603005-114603005

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

5-0015-004

chr3:
115180254-115180254

G

A

intergenic

De novo

-

Yuen2017 G

ZBTB20

AU012803

chr3:
114818348-114818349

AT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

7-0130-003

chr3:
115060784-115060784

A

G

intergenic

De novo

-

Yuen2017 G

ZBTB20

A19

chr3:
114411672-114411672

C

T

intronic

De novo

-

Wu2018 G

ZBTB20

AU056804

chr3:
115151243-115151243

C

G

intergenic

De novo

-

Yuen2017 G

ZBTB20

AU3645301

chr3:
114313354-114313354

C

A

intronic

De novo

-

Yuen2017 G

ZBTB20

2-1342-003

chr3:
114853095-114853095

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZBTB20

1-0526-003

chr3:
114572766-114572766

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

2-1117-003

chr3:
114515122-114515122

G

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZBTB20

2-1086-004

chr3:
115334830-115334830

C

G

intergenic

De novo

-

Yuen2017 G

ZBTB20

2-1258-003

chr3:
115093042-115093042

G

GTA

intergenic

De novo

-

Yuen2017 G

ZBTB20

2-1258-003

chr3:
114709392-114709392

G

A

intronic

De novo

-

Yuen2017 G

ZBTB20

AU2035302

chr3:
115227355-115227355

A

G

intergenic

De novo

-

Yuen2017 G

ZBTB20

1-0651-003

chr3:
114581158-114581158

A

G

intronic

De novo

-

Yuen2017 G

ZBTB20

2-1174-006

chr3:
115037047-115037047

G

C

intergenic

De novo

-

Yuen2017 G

ZBTB20

2-1174-006

chr3:
114949345-114949345

A

G

intergenic

De novo

-

Yuen2017 G

ZBTB20

5-0074-003

chr3:
114823462-114823462

C

T

intronic

De novo

-

Yuen2017 G

ZBTB20

AU3857301

chr3:
114736720-114736720

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

AU3649305

chr3:
114792538-114792540

TAA

TAAA

intronic

De novo

-

Yuen2017 G

ZBTB20

AU1668302

chr3:
114983191-114983191

C

T

intergenic

De novo

-

Yuen2017 G

ZBTB20

1-0006-003

chr3:
115279927-115279927

C

T

intergenic

De novo

-

Yuen2017 G

ZBTB20

3-0458-000

chr3:
115287622-115287622

T

G

intergenic

De novo

-

Yuen2016 G

ZBTB20

1-0079-003

chr3:
114783255-114783255

G

GAATTCAAA

intronic

De novo

-

Yuen2017 G

ZBTB20

AU4032307

chr3:
114897014-114897014

G

T

intergenic

De novo

-

Yuen2017 G

ZBTB20

1-0385-003

chr3:
115015597-115015597

A

G

intergenic

De novo

-

Yuen2017 G

ZBTB20

AU4273304

chr3:
114322644-114322644

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

AU009903

chr3:
114287096-114287096

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

7-0133-003

chr3:
115277220-115277220

A

G

intergenic

De novo

-

Yuen2017 G

ZBTB20

AU4263304

chr3:
114448438-114448438

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

1-0332-003

chr3:
114050579-114050579

C

T

UTR3

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

1-0973-003

chr3:
114703780-114703780

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

GEA400

chr3:
114070228-114070228

G

A

exonic

De novo

stopgain

NM_001164342
NM_001164346
NM_001164347
NM_001164345
NM_001164344
NM_015642
NM_001164343

c.C697T
c.C478T
c.C478T
c.C478T
c.C478T
c.C478T
c.C478T

p.Q233X
p.Q160X
p.Q160X
p.Q160X
p.Q160X
p.Q160X
p.Q160X

39.0

-

Fu2022 E

ZBTB20

2-1322-003

chr3:
115093042-115093042

G

GTA

intergenic

De novo

-

Yuen2017 G

ZBTB20

1550-22157

chr3:
114462627-114462627

C

T

splicing

Inherited

splicing

-

Callaghan2019 G

ZBTB20

7-0001-003

chr3:
114431022-114431022

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

1-0294-003

chr3:
114140325-114140325

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZBTB20

AU2381302

chr3:
114625755-114625755

C

T

intronic

De novo

-

Yuen2017 G

ZBTB20

1-0404-003

chr3:
115244365-115244365

G

A

intergenic

De novo

-

Yuen2017 G

ZBTB20

2-0210-004

chr3:
114428464-114428464

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

1-0985-003

chr3:
115340791-115340791

C

T

intergenic

De novo

-

Yuen2017 G

ZBTB20

5-0103-003

chr3:
114891444-114891444

G

A

intergenic

De novo

-

Yuen2017 G

ZBTB20

AU045010

chr3:
114145142-114145142

G

A

intronic

De novo

-

Yuen2017 G

ZBTB20

2-1267-003

chr3:
114240103-114240103

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

3-0749-000A

chr3:
114049177-114049177

C

A

UTR3

De novo

-

Trost2022 G

ZBTB20

1-0278-003

chr3:
115273857-115273857

T

C

intergenic

De novo

-

Yuen2016 G

ZBTB20

MSSNG00344-004

chr3:
114269486-114269486

T

C

intronic

De novo

-

Trost2022 G

ZBTB20

AU4423303

chr3:
114158150-114158150

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

4-0010-003

chr3:
114159622-114159622

A

C

intronic

De novo

-

Trost2022 G

ZBTB20

4-0062-003

chr3:
114132734-114132734

C

TA

intronic

De novo

-

Trost2022 G

ZBTB20

MSSNG00257-004

chr3:
114144215-114144215

G

A

intronic

De novo

-

Trost2022 G

ZBTB20

2-1379-003

chr3:
114263302-114263305

TTCT

TT

intronic

De novo

-

Yuen2017 G

ZBTB20

1-1054-003

chr3:
114452644-114452644

G

T

intronic

De novo

-

Trost2022 G

ZBTB20

3-0284-000

chr3:
114458844-114458845

AT

TC

intronic

De novo

-

Trost2022 G

ZBTB20

1027

chr3:
114442641-114442641

T

C

intronic

De novo

-

Trost2022 G

ZBTB20

1-0589-003

chr3:
114451536-114451536

A

G

intronic

De novo

-

Trost2022 G

ZBTB20

REACH000426

chr3:
114389137-114389137

A

C

intronic

De novo

-

Trost2022 G

ZBTB20

7-0356-003

chr3:
114437615-114437615

C

T

intronic

De novo

-

Trost2022 G

ZBTB20

1-0680-003

chr3:
114295273-114295273

C

T

intronic

De novo

-

Trost2022 G

ZBTB20

7-0174-003

chr3:
114491299-114491299

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

D4S2Z-01

chr3:
114347703-114347703

G

C

intronic

De novo

-

Trost2022 G

ZBTB20

2-1526-003

chr3:
115325470-115325470

A

G

intergenic

De novo

-

Yuen2017 G

ZBTB20

1-0756-004

chr3:
114668345-114668345

C

T

intronic

De novo

-

Trost2022 G

ZBTB20

1-0043-003

chr3:
114668352-114668352

T

C

intronic

De novo

-

Trost2022 G

ZBTB20

MSSNG00342-004

chr3:
114600480-114600480

A

G

intronic

De novo

-

Trost2022 G

ZBTB20

7-0143-003

chr3:
115323959-115323959

G

A

intergenic

De novo

-

Yuen2017 G

ZBTB20

1-0043-003

chr3:
114668345-114668345

C

T

intronic

De novo

-

Trost2022 G

ZBTB20

1-1049-003

chr3:
114491891-114491891

T

C

intronic

De novo

-

Trost2022 G

ZBTB20

AU031403

chr3:
114484427-114484427

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZBTB20

MSSNG00399-003

chr3:
114597860-114597860

G

A

intronic

De novo

-

Trost2022 G

ZBTB20

MSSNG00329-003

chr3:
114463569-114463569

C

A

intronic

De novo

-

Trost2022 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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