Variant Results

or

Results for "ZBTB18"

Variant Events: 28

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

ZBTB18

AU049304

chr1:
244435693-244435693

C

T

intergenic

De novo

-

Yuen2017 G

ZBTB18

1-0190-003

chr1:
244336459-244336459

A

G

intergenic

De novo

-

Yuen2017 G

ZBTB18

1-0481-003

chr1:
244511883-244511883

T

C

intergenic

De novo

-

Yuen2017 G

ZBTB18

2-1106-004

chr1:
244221130-244221130

G

A

downstream

De novo

-

Trost2022 G

ZBTB18

SP0239513

chr1:
244218593-244218593

C

T

exonic

De novo

nonsynonymous SNV

NM_006352
NM_001278196
NM_205768

c.C1490T
c.C1490T
c.C1517T

p.S497L
p.S497L
p.S506L

11.66

-

Trost2022 G

ZBTB18

1-0433-003

chr1:
244292226-244292226

A

C

intergenic

De novo

-

Yuen2017 G

ZBTB18

2-1142-003

chr1:
244261081-244261081

C

A

intergenic

De novo

-

Yuen2017 G

ZBTB18

ACGC_HN0267.p1

chr1:
244217773-244217773

C

T

exonic

De novo

stopgain

NM_006352
NM_001278196
NM_205768

c.C670T
c.C670T
c.C697T

p.Q224X
p.Q224X
p.Q233X

32.0

-

Wang2020 T

ZBTB18

7-0189-003

chr1:
244217659-244217659

C

T

exonic

De novo

stopgain

NM_006352
NM_001278196
NM_205768

c.C556T
c.C556T
c.C583T

p.R186X
p.R186X
p.R195X

36.0

-

Trost2022 G
Zhou2022 GE

ZBTB18

AU3858303

chr1:
244399746-244399746

C

G

intergenic

De novo

-

Yuen2017 G

ZBTB18

1-0155-003

chr1:
244390851-244390851

A

T

intergenic

De novo

-

Yuen2017 G

ZBTB18

More2023:22

chr1:
244217437-244217437

G

C

exonic

De novo

nonsynonymous SNV

NM_006352
NM_001278196
NM_205768

c.G334C
c.G334C
c.G361C

p.V112L
p.V112L
p.V121L

24.0

-

More2023 G

ZBTB18

BCM_9255056

chr1:
244218383-244218383

G

T

exonic

De novo

nonsynonymous SNV

NM_006352
NM_001278196
NM_205768

c.G1280T
c.G1280T
c.G1307T

p.R427L
p.R427L
p.R436L

19.87

-

Wang2020 T

ZBTB18

2-1338-003

chr1:
244224943-244224943

G

T

intergenic

De novo

-

Yuen2017 G

ZBTB18

SP0041539

chr1:
244218437-244218437

A

T

exonic

De novo

nonsynonymous SNV

NM_006352
NM_001278196
NM_205768

c.A1334T
c.A1334T
c.A1361T

p.K445M
p.K445M
p.K454M

17.12

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

ZBTB18

1-0558-003

chr1:
244397726-244397746

GGCTGCTGCTGCTGCTGCTGC

GGCTGCTGCTGCTGCTGC

intergenic

De novo

-

Yuen2017 G

ZBTB18

BCM_9290487

chr1:
244218541-244218541

G

T

exonic

De novo

nonsynonymous SNV

NM_006352
NM_001278196
NM_205768

c.G1438T
c.G1438T
c.G1465T

p.D480Y
p.D480Y
p.D489Y

17.97

-

Wang2020 T

ZBTB18

13951.p1

chr1:
244436347-244436347

A

C

intergenic

De novo

-

Turner2016 G

ZBTB18

BCM_8999478

chr1:
244218454-244218454

C

T

exonic

De novo

nonsynonymous SNV

NM_006352
NM_001278196
NM_205768

c.C1351T
c.C1351T
c.C1378T

p.H451Y
p.H451Y
p.H460Y

16.79

-

Wang2020 T

ZBTB18

NDAR_INVVH064RG2_wes1

chr1:
244218501-244218501

C

T

exonic

De novo

synonymous SNV

NM_006352
NM_001278196
NM_205768

c.C1398T
c.C1398T
c.C1425T

p.H466H
p.H466H
p.H475H

2.186

8.315E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZBTB18

2-0019-004

chr1:
244240214-244240214

T

A

intergenic

De novo

-

Yuen2017 G

ZBTB18

AU2117302

chr1:
244380287-244380287

G

A

intergenic

De novo

-

Yuen2017 G

ZBTB18

AU2165301

chr1:
244463543-244463543

C

G

intergenic

De novo

-

Yuen2017 G

ZBTB18

2-0129-004

chr1:
244306519-244306519

A

T

intergenic

De novo

-

Yuen2017 G

ZBTB18

2-0225-004

chr1:
244225806-244225806

C

T

intergenic

De novo

-

Yuen2017 G

ZBTB18

152791

chr1:
244217877-244217877

T

C

exonic

De novo

synonymous SNV

NM_006352
NM_001278196
NM_205768

c.T774C
c.T774C
c.T801C

p.Y258Y
p.Y258Y
p.Y267Y

-

Fu2022 E

ZBTB18

AU072504

chr1:
244360507-244360507

G

A

intergenic

De novo

-

Yuen2017 G

ZBTB18

2-0198-003

chr1:
244291737-244291737

C

A

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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