Variant Results

or

Results for "ZNF536"

Variant Events: 100

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

ZNF536

1-0558-003

chr19:
31483611-31483611

A

C

intergenic

De novo

-

Yuen2017 G

ZNF536

1-0393-003

chr19:
30972782-30972782

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF536

2-1283-004

chr19:
30995678-30995678

G

T

intronic

De novo

-

Yuen2017 G

ZNF536

1-0757-003

chr19:
31578127-31578132

AAGTTA

AAGTTAGTTA

intergenic

De novo

-

Yuen2017 G

ZNF536

1-0381-003

chr19:
31410771-31410790

AAGGAGGAGGAGGAGGAGGA

AAGGAGGAGGAGGAGGA

intergenic

De novo

-

Yuen2017 G

ZNF536

3-0146-000

chr19:
30910963-30910963

A

T

intronic

De novo

-

Trost2022 G

ZNF536

1-0161-003

chr19:
30910963-30910963

A

T

intronic

De novo

-

Trost2022 G

ZNF536

MSSNG00365-003

chr19:
30889689-30889689

T

C

intronic

De novo

-

Trost2022 G

ZNF536

2-1629-003

chr19:
30889050-30889050

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF536

AU2310301

chr19:
30901538-30901538

C

T

intronic

De novo

-

Trost2022 G

ZNF536

REACH000292

chr19:
30872471-30872471

C

A

intronic

De novo

-

Trost2022 G

ZNF536

MSSNG00383-003

chr19:
30878873-30878873

C

T

intronic

De novo

-

Trost2022 G

ZNF536

2-1231-003

chr19:
30949478-30949478

G

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZNF536

AU2951303

chr19:
31563413-31563413

T

C

intergenic

De novo

-

Yuen2017 G

ZNF536

7-0258-003

chr19:
30971739-30971739

T

G

intronic

De novo

-

Trost2022 G

ZNF536

026-06-105556

chr19:
31039424-31039424

G

A

exonic

De novo

synonymous SNV

NM_014717

c.G2898A

p.R966R

-

8.264E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZNF536

1-0059-003A

chr19:
30976733-30976733

C

G

intronic

De novo

-

Trost2022 G

ZNF536

5-5119-003

chr19:
30945608-30945609

GA

G

intronic

De novo

-

Trost2022 G

ZNF536

REACH000154

chr19:
30957467-30957467

T

TAGAA

intronic

De novo

-

Trost2022 G

ZNF536

1-0338-003

chr19:
31190327-31190327

A

AT

intergenic

De novo

-

Yuen2017 G

ZNF536

AU3787303

chr19:
30920944-30920944

T

G

intronic

De novo

-

Trost2022 G

ZNF536

SJD_15.3

chr19:
30928041-30928041

T

A

intronic

De novo

-

Trost2022 G

ZNF536

3-0459-000

chr19:
30912698-30912698

A

G

intronic

De novo

-

Trost2022 G

ZNF536

MSSNG00329-003

chr19:
30920686-30920686

T

C

intronic

De novo

-

Trost2022 G

ZNF536

2-1127-003

chr19:
31136370-31136370

G

C

intergenic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZNF536

1-0329-004

chr19:
31047785-31047799

TCGGATGTTGTGTGC

CAAAAAAAAAAAAAAGA

intronic

De novo

-

Trost2022 G

ZNF536

MSSNG00377-003

chr19:
31085288-31085288

G

A

intergenic

De novo

-

Trost2022 G

ZNF536

7-0198-003

chr19:
31042258-31042258

C

A

intronic

De novo

-

Trost2022 G

ZNF536

2-1127-003

chr19:
31135588-31135588

A

T

intergenic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZNF536

4-0037-003

chr19:
31045485-31045485

C

T

intronic

De novo

-

Trost2022 G

ZNF536

10-1155-004

chr19:
31007920-31007920

G

A

intronic

De novo

-

Trost2022 G

ZNF536

2-1242-003

chr19:
31394932-31394934

GAA

GAAAGAAA

intergenic

De novo

-

Yuen2017 G

ZNF536

2-1764-003

chr19:
31019825-31019825

A

G

intronic

De novo

-

Trost2022 G

ZNF536

2-1430-003

chr19:
31134897-31134897

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ZNF536

2-1605-004

chr19:
31106899-31106899

G

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

ZNF536

2-0205-003

chr19:
30987524-30987524

G

A

intronic

De novo

-

Trost2022 G

ZNF536

MSSNG00360-003

chr19:
30994585-30994585

C

A

intronic

De novo

-

Trost2022 G

ZNF536

2-1430-003A

chr19:
31134897-31134897

G

A

intergenic

De novo

-

Trost2022 G

ZNF536

1-0291-003

chr19:
31143921-31143921

C

T

intergenic

De novo

-

Trost2022 G

ZNF536

1005

chr19:
31123005-31123005

G

A

intergenic

De novo

-

Trost2022 G

ZNF536

MT_183.3

chr19:
31132852-31132852

C

T

intergenic

De novo

-

Trost2022 G

ZNF536

7-0199-003

chr19:
31108005-31108005

C

T

intergenic

De novo

-

Trost2022 G

ZNF536

AU2562301

chr19:
31122632-31122632

C

T

intergenic

De novo

-

Trost2022 G

ZNF536

SSC06454

chr19:
31039805-31039805

C

T

exonic

De novo

synonymous SNV

NM_014717

c.C3279T

p.S1093S

-

7.415E-5

Fu2022 E
Trost2022 G

ZNF536

1-1071-003

chr19:
31087956-31087956

C

A

intergenic

De novo

-

Trost2022 G

ZNF536

2-1120-003

chr19:
31181996-31181996

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

ZNF536

MSSNG00397-003

chr19:
31102574-31102574

G

A

intergenic

De novo

-

Trost2022 G

ZNF536

AU4237302

chr19:
31643525-31643525

G

C

intergenic

De novo

-

Yuen2017 G

ZNF536

7-0331-003

chr19:
31202467-31202467

A

G

intergenic

De novo

-

Trost2022 G

ZNF536

5-5233-003

chr19:
31156714-31156714

G

A

intergenic

De novo

-

Trost2022 G

ZNF536

4-0010-003

chr19:
31174003-31174004

AT

GA

intergenic

De novo

-

Trost2022 G

ZNF536

AU072905

chr19:
30988431-30988431

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF536

11588.p1

chr19:
31039705-31039706

AC

A

exonic

De novo

frameshift deletion

NM_014717

c.3180delC

p.N1060fs

-

Ji2016 E
Krumm2015 E

ZNF536

2-1235-003

chr19:
31586625-31586627

AAC

A

intergenic

De novo

-

Yuen2017 G

ZNF536

2-1715-004

chr19:
31420703-31420703

C

T

intergenic

De novo

-

Yuen2017 G

ZNF536

5-0055-003

chr19:
31358636-31358636

A

C

intergenic

De novo

-

Yuen2017 G

ZNF536

AU4483301

chr19:
31744254-31744254

A

G

intergenic

De novo

-

Yuen2017 G

ZNF536

SP0071506

chr19:
31039181-31039181

G

A

exonic

De novo

synonymous SNV

NM_014717

c.G2655A

p.L885L

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ZNF536

SP0038870

chr19:
31025951-31025951

G

A

intronic

De novo

-

Fu2022 E

ZNF536

1-0325-003

chr19:
31502863-31502863

G

A

intergenic

De novo

-

Yuen2017 G

ZNF536

2-1296-003

chr19:
31130267-31130267

C

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

ZNF536

AU4186302

chr19:
31541866-31541866

G

C

intergenic

De novo

-

Yuen2017 G

ZNF536

AU3517301

chr19:
31141656-31141656

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

ZNF536

AU4243302

chr19:
30964566-30964566

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF536

14015.p1

chr19:
31221783-31221783

A

G

intergenic

De novo

-

Turner2016 G

ZNF536

13069.p1

chr19:
31508318-31508318

A

G

intergenic

De novo

-

Turner2016 G

ZNF536

2-1329-003

chr19:
31380123-31380123

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ZNF536

13069.p1

chr19:
31220771-31220771

C

T

intergenic

De novo

-

Turner2016 G

ZNF536

1-0338-005

chr19:
31190327-31190327

A

AT

intergenic

De novo

-

Yuen2017 G

ZNF536

AU2793303

chr19:
31325849-31325849

C

A

intergenic

De novo

-

Yuen2017 G

ZNF536

2-1329-003

chr19:
31381490-31381490

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ZNF536

1-0488-003

chr19:
31264536-31264536

A

G

intergenic

De novo

-

Yuen2017 G

ZNF536

AU0039303

chr19:
31309792-31309792

G

A

intergenic

De novo

-

Yuen2017 G

ZNF536

2-1278-003

chr19:
31716591-31716591

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ZNF536

13054.p1

chr19:
31039805-31039805

C

T

exonic

De novo

synonymous SNV

NM_014717

c.C3279T

p.S1093S

-

7.415E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

ZNF536

2-1283-003

chr19:
30995678-30995678

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF536

AU2951302

chr19:
31563413-31563413

T

C

intergenic

De novo

-

Yuen2017 G

ZNF536

AU3911301

chr19:
30879766-30879766

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF536

AU046706

chr19:
31292326-31292329

TAAA

TAA

intergenic

De novo

-

Yuen2017 G

ZNF536

AU021204

chr19:
31371120-31371120

C

A

intergenic

De novo

-

Yuen2017 G

ZNF536

2-0033-003

chr19:
31055919-31055919

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

ZNF536

SP0038516

chr19:
31039670-31039670

G

A

exonic

De novo

synonymous SNV

NM_014717

c.G3144A

p.A1048A

-

Feliciano2019 E
Trost2022 G

ZNF536

AU3997301

chr19:
31284530-31284530

A

G

intergenic

De novo

-

Yuen2017 G

ZNF536

2-1268-003

chr19:
31417810-31417810

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ZNF536

2-0320-003

chr19:
31091708-31091708

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

ZNF536

AU4215302

chr19:
31218724-31218724

C

T

intergenic

De novo

-

Yuen2017 G

ZNF536

1-0059-003

chr19:
30976733-30976733

C

G

intronic

De novo

-

Yuen2017 G

ZNF536

AU2950301

chr19:
31690178-31690178

C

T

intergenic

De novo

-

Yuen2017 G

ZNF536

AU4129303

chr19:
31749568-31749568

C

T

intergenic

De novo

-

Yuen2017 G

ZNF536

2-1195-003

chr19:
31132576-31132576

C

T

intergenic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZNF536

AU4327303

chr19:
30920178-30920178

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF536

AU3712301

chr19:
31497263-31497263

A

G

intergenic

De novo

-

Yuen2017 G

ZNF536

5-0017-003

chr19:
31386883-31386883

C

T

intergenic

De novo

-

Yuen2017 G

ZNF536

1-0347-003

chr19:
31328610-31328610

G

C

intergenic

De novo

-

Yuen2017 G

ZNF536

2-1335-004

chr19:
31487653-31487653

T

C

intergenic

De novo

-

Yuen2017 G

ZNF536

2-1335-004

chr19:
31203895-31203895

G

A

intergenic

De novo

-

Yuen2017 G

ZNF536

2-1731-003

chr19:
30963970-30963970

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF536

Costa2023:P24-1

chr19:
30936040-30936040

G

A

exonic

De novo

stopgain

NM_014717

c.G1571A

p.W524X

38.0

-

Costa2023 E

ZNF536

1-0385-003

chr19:
31591629-31591629

G

A

intergenic

De novo

-

Yuen2017 G

ZNF536

2-1140-003

chr19:
31574153-31574153

C

T

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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