Variant Results

or

Results for "ZNF804B"

Variant Events: 91

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

ZNF804B

1-0028-003

chr7:
89304545-89304545

T

G

intergenic

De novo

-

Yuen2017 G

ZNF804B

5-0009-003

chr7:
88621998-88621998

T

C

intronic

De novo

-

Trost2022 G

ZNF804B

3-0519-000

chr7:
88650878-88650878

T

C

intronic

De novo

-

Trost2022 G

ZNF804B

2-1798-003

chr7:
88543788-88543788

C

A

intronic

De novo

-

Trost2022 G

ZNF804B

1004

chr7:
88571466-88571466

A

G

intronic

De novo

-

Trost2022 G

ZNF804B

14394.p1

chr7:
88389394-88389394

C

T

exonic

De novo

nonsynonymous SNV

NM_181646

c.C104T

p.S35F

19.94

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

ZNF804B

AU1933302

chr7:
89507888-89507888

G

A

intergenic

De novo

-

Yuen2017 G

ZNF804B

MSSNG00034-003

chr7:
88527525-88527525

C

A

intronic

De novo

-

Trost2022 G

ZNF804B

MSSNG00116-003

chr7:
88536636-88536636

G

T

intronic

De novo

-

Trost2022 G

ZNF804B

AU4056301

chr7:
89240715-89240715

T

C

intergenic

De novo

-

Yuen2017 G

ZNF804B

REACH000735

chr7:
88503257-88503257

G

A

intronic

De novo

-

Trost2022 G

ZNF804B

1-0007-003

chr7:
88683040-88683055

TTCTCTCTCTCTCTCT

TTCTCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

ZNF804B

5-0039-003

chr7:
88513544-88513544

C

T

intronic

De novo

-

Trost2022 G

ZNF804B

1-0274-003

chr7:
89193100-89193100

C

CATAT

intergenic

De novo

-

Yuen2017 G

ZNF804B

7-0044-003

chr7:
89217915-89217915

C

T

intergenic

De novo

-

Yuen2017 G

ZNF804B

3-0708-000

chr7:
88722553-88722554

CC

GG

intronic

De novo

-

Trost2022 G

ZNF804B

1-0218-004

chr7:
88574076-88574076

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF804B

REACH000229

chr7:
88725591-88725591

A

G

intronic

De novo

-

Trost2022 G

ZNF804B

7-0344-003

chr7:
88687250-88687250

A

C

intronic

De novo

-

Trost2022 G

ZNF804B

10-0001-003

chr7:
88720313-88720313

C

T

intronic

De novo

-

Trost2022 G

ZNF804B

2-1723-003

chr7:
88654251-88654252

AG

TC

intronic

De novo

-

Trost2022 G

ZNF804B

1-0708-003

chr7:
89115356-89115356

A

C

intergenic

De novo

-

Yuen2017 G

ZNF804B

AU2303301

chr7:
88680531-88680532

TA

T

intronic

De novo

-

Trost2022 G

ZNF804B

1031

chr7:
88652450-88652450

A

G

intronic

De novo

-

Trost2022 G

ZNF804B

1-1072-003

chr7:
88652835-88652835

G

C

intronic

De novo

-

Trost2022 G

ZNF804B

1-0092-003

chr7:
88825857-88825857

A

T

intronic

De novo

-

Trost2022 G

ZNF804B

1-0092-003

chr7:
88825860-88825860

A

C

intronic

De novo

-

Trost2022 G

ZNF804B

AU2415301

chr7:
88822743-88822743

A

G

intronic

De novo

-

Trost2022 G

ZNF804B

2-0142-003

chr7:
88825212-88825214

CAG

AAA

intronic

De novo

-

Trost2022 G

ZNF804B

AU2320301

chr7:
88771598-88771598

G

GT

intronic

De novo

-

Trost2022 G

ZNF804B

1-0288-004

chr7:
88822074-88822074

A

G

intronic

De novo

-

Trost2022 G

ZNF804B

2-0205-003

chr7:
88746230-88746230

T

A

intronic

De novo

-

Trost2022 G

ZNF804B

AU3885304

chr7:
89510085-89510085

A

G

intergenic

De novo

-

Yuen2017 G

ZNF804B

7-0420-003

chr7:
88758450-88758450

A

G

intronic

De novo

-

Trost2022 G

ZNF804B

5-0054-003

chr7:
88578994-88578994

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF804B

1-0738-003

chr7:
88953966-88953966

A

T

intronic

De novo

-

Trost2022 G

ZNF804B

1-1226-003

chr7:
88923394-88923394

C

T

intronic

De novo

-

Trost2022 G

ZNF804B

AU4235302

chr7:
88583180-88583180

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF804B

2-1765-003

chr7:
88927710-88927710

A

G

intronic

De novo

-

Trost2022 G

ZNF804B

2-1142-003

chr7:
89160123-89160123

G

A

intergenic

De novo

-

Yuen2017 G

ZNF804B

SJD_66.3

chr7:
88874633-88874633

G

A

intronic

De novo

-

Trost2022 G

ZNF804B

7-0361-003

chr7:
88918567-88918567

A

G

intronic

De novo

-

Trost2022 G

ZNF804B

5-0017-004

chr7:
89452030-89452030

G

A

intergenic

De novo

-

Yuen2017 G

ZNF804B

1-0092-003

chr7:
88825864-88825865

CT

TCAG

intronic

De novo

-

Trost2022 G

ZNF804B

2-0320-003

chr7:
89308647-89308647

A

C

intergenic

De novo

-

Yuen2017 G

ZNF804B

REACH000345

chr7:
88858168-88858168

C

T

intronic

De novo

-

Trost2022 G

ZNF804B

2-1626-003

chr7:
88740935-88740939

TCACA

TCA

intronic

De novo

-

Yuen2017 G

ZNF804B

AU4359301

chr7:
89253517-89253517

G

A

intergenic

De novo

-

Yuen2017 G

ZNF804B

2-1296-003

chr7:
88914376-88914376

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF804B

AU060004

chr7:
89094071-89094071

C

T

intergenic

De novo

-

Yuen2017 G

ZNF804B

AU071804

chr7:
89247524-89247525

TG

T

intergenic

De novo

-

Yuen2017 G

ZNF804B

2-0285-003

chr7:
89115053-89115053

C

A

intergenic

De novo

-

Yuen2017 G

ZNF804B

2-1502-003

chr7:
89216139-89216139

T

C

intergenic

De novo

-

Yuen2017 G

ZNF804B

AU065304

chr7:
88721273-88721273

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF804B

2-0713-003

chr7:
89324743-89324743

C

T

intergenic

De novo

-

Yuen2017 G

ZNF804B

AU3808304

chr7:
88706991-88706991

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF804B

5-0042-003

chr7:
88427596-88427596

C

A

intronic

De novo

-

Yuen2017 G

ZNF804B

1-0112-004

chr7:
89332445-89332445

A

C

intergenic

De novo

-

Yuen2017 G

ZNF804B

AU2137304

chr7:
88636151-88636151

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF804B

AU1308303

chr7:
89449770-89449770

C

G

intergenic

De novo

-

Yuen2017 G

ZNF804B

AU024608

chr7:
88635670-88635670

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF804B

AU2100302

chr7:
88728108-88728108

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF804B

1-0469-003

chr7:
88965419-88965419

C

A

exonic

De novo

nonsynonymous SNV

NM_181646

c.C3123A

p.N1041K

12.02

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

ZNF804B

2-1359-004

chr7:
89238284-89238284

T

TA

intergenic

De novo

-

Yuen2017 G

ZNF804B

14394_p1

chr7:
88389394-88389394

C

T

exonic

De novo

nonsynonymous SNV

NM_181646

c.C104T

p.S35F

19.94

-

Fu2022 E

ZNF804B

SP0085183

chr7:
88966019-88966019

A

G

exonic

synonymous SNV

NM_181646

c.A3723G

p.A1241A

-

Zhou2022 GE

ZNF804B

10C117850

chr7:
88963885-88963885

A

T

exonic

De novo

nonsynonymous SNV

NM_181646

c.A1589T

p.D530V

15.51

-

Fu2022 E

ZNF804B

2-1254-003

chr7:
88456463-88456463

A

G

intronic

De novo

-

Yuen2016 G

ZNF804B

2-1454-003

chr7:
89219601-89219601

G

C

intergenic

De novo

-

Yuen2017 G

ZNF804B

7-0219-003

chr7:
88735169-88735169

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF804B

AU075803

chr7:
89196871-89196871

A

C

intergenic

De novo

-

Yuen2017 G

ZNF804B

2-1629-003

chr7:
88538425-88538425

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF804B

mAGRE5273

chr7:
88963320-88963320

G

T

exonic

Paternal

stopgain

NM_181646

c.G1024T

p.E342X

40.0

2.522E-5

Cirnigliaro2023 G

ZNF804B

AU4067301

chr7:
88940833-88940833

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF804B

1-0112-003

chr7:
88790858-88790858

T

TCCTG

intronic

De novo

-

Yuen2017 G

ZNF804B

2-1330-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2016 G

ZNF804B

AU4060306

chr7:
89301175-89301175

C

G

intergenic

De novo

-

Yuen2017 G

ZNF804B

EGAN00001100900

chr7:
88966134-88966134

C

T

exonic

De novo

nonsynonymous SNV

NM_181646

c.C3838T

p.H1280Y

18.88

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZNF804B

AU3787303

chr7:
88821355-88821355

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF804B

2-1341-003

chr7:
89310868-89310868

T

A

intergenic

De novo

-

Yuen2017 G

ZNF804B

AU2162302

chr7:
89084468-89084468

T

G

intergenic

De novo

-

Yuen2017 G

ZNF804B

AU2140305

chr7:
88699943-88699943

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF804B

AU3605304

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

ZNF804B

AU2622301

chr7:
88476553-88476553

A

G

intronic

De novo

-

Trost2022 G

ZNF804B

REACH000686

chr7:
88503101-88503101

C

T

intronic

De novo

-

Trost2022 G

ZNF804B

MSSNG00098-004

chr7:
88453047-88453047

T

C

intronic

De novo

-

Trost2022 G

ZNF804B

2-1290-003

chr7:
88471103-88471104

AC

TA

intronic

De novo

-

Trost2022 G

ZNF804B

1-0206-003

chr7:
88425432-88425461

TTTAAGAGATGCACCTCTTAAAATTGTGTC

T

intronic

De novo

-

Trost2022 G

ZNF804B

10-0005-003

chr7:
88446574-88446574

T

C

intronic

De novo

-

Trost2022 G

ZNF804B

3-0602-000

chr7:
88388910-88388910

C

A

UTR5

De novo

-

Trost2022 G

ZNF804B

5-5014-003

chr7:
88400286-88400286

A

C

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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