Variant Results

or

Results for "ZDHHC14"

Variant Events: 54

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

ZDHHC14

2-1154-003

chr6:
157926516-157926516

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZDHHC14

NDAR_INVNE346GDX_wes1

chr6:
158014030-158014030

C

T

exonic

De novo

synonymous SNV

NM_024630
NM_153746

c.C417T
c.C417T

p.N139N
p.N139N

-

2.507E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZDHHC14

2-1480-003

chr6:
157818546-157818546

C

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZDHHC14

A8

chr6:
157967207-157967207

C

T

intronic

De novo

-

Wu2018 G

ZDHHC14

2-0300-003

chr6:
157873829-157873829

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZDHHC14

2-1277-003

chr6:
157991420-157991420

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZDHHC14

AU4376301

chr6:
158062703-158062705

CGG

CG

intronic

De novo

-

Yuen2017 G

ZDHHC14

MSSNG00029-003

chr6:
157812935-157812935

T

C

intronic

De novo

-

Trost2022 G

ZDHHC14

1-0358-003

chr6:
157931139-157931139

T

G

intronic

De novo

-

Yuen2017 G

ZDHHC14

3-0539-000

chr6:
157920233-157920233

G

A

intronic

De novo

-

Trost2022 G

ZDHHC14

3-0262-000

chr6:
157932465-157932465

T

C

intronic

De novo

-

Trost2022 G

ZDHHC14

3-0208-000

chr6:
157910166-157910166

G

A

intronic

De novo

-

Trost2022 G

ZDHHC14

MSSNG00125-003

chr6:
157914360-157914360

G

A

intronic

De novo

-

Trost2022 G

ZDHHC14

AU2579302

chr6:
157848787-157848787

A

G

intronic

De novo

-

Trost2022 G

ZDHHC14

REACH000696

chr6:
157865069-157865069

T

G

intronic

De novo

-

Trost2022 G

ZDHHC14

MT_188.3

chr6:
157823568-157823568

C

T

intronic

De novo

-

Trost2022 G

ZDHHC14

MT_188.3

chr6:
157830121-157830121

C

T

intronic

De novo

-

Trost2022 G

ZDHHC14

MSSNG00350-003

chr6:
158098885-158098885

A

G

intergenic

De novo

-

Trost2022 G

ZDHHC14

SP0149265

chr6:
158093924-158093924

G

A

exonic

De novo

nonsynonymous SNV

NM_024630
NM_153746

c.G1237A
c.G1192A

p.A413T
p.A398T

12.99

1.213E-5

Trost2022 G

ZDHHC14

1-0853-003

chr6:
158098287-158098287

A

C

intergenic

De novo

-

Trost2022 G

ZDHHC14

MT_24.3

chr6:
158012757-158012757

G

A

intronic

De novo

-

Trost2022 G

ZDHHC14

AU1987302

chr6:
158144691-158144691

G

A

intergenic

De novo

-

Yuen2017 G

ZDHHC14

L7H6W_01

chr6:
158023004-158023004

G

A

intronic

De novo

-

Trost2022 G

ZDHHC14

5-5069-003

chr6:
157937933-157937933

T

C

intronic

De novo

-

Trost2022 G

ZDHHC14

1045

chr6:
157938710-157938710

C

T

intronic

De novo

-

Trost2022 G

ZDHHC14

1-0261-004

chr6:
157888675-157888675

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZDHHC14

AU002405

chr6:
158125021-158125021

G

T

intergenic

De novo

-

Yuen2017 G

ZDHHC14

1-0498-003

chr6:
158110489-158110489

G

A

intergenic

De novo

-

Yuen2017 G

ZDHHC14

2-1182-003

chr6:
158111852-158111852

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ZDHHC14

7-0100-003

chr6:
158195293-158195293

G

A

intergenic

De novo

-

Yuen2017 G

ZDHHC14

2-1358-003

chr6:
157968201-157968201

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZDHHC14

AU050604

chr6:
157831231-157831231

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZDHHC14

AU057404

chr6:
157855860-157855860

G

A

intronic

De novo

-

Yuen2017 G

ZDHHC14

2-1299-003

chr6:
158041808-158041816

CTCAGGGCA

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZDHHC14

5-0131-003

chr6:
158195293-158195293

G

A

intergenic

De novo

-

Yuen2017 G

ZDHHC14

AU2137304

chr6:
158192946-158192946

G

C

intergenic

De novo

-

Yuen2017 G

ZDHHC14

AU2410301

chr6:
158091843-158091843

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZDHHC14

133344

chr6:
158014131-158014131

T

C

exonic

nonsynonymous SNV

NM_024630
NM_153746

c.T518C
c.T518C

p.F173S
p.F173S

25.3

-

Woodbury-Smith2022 E

ZDHHC14

AU4410302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

ZDHHC14

1-0973-003

chr6:
158174565-158174565

G

A

intergenic

De novo

-

Yuen2017 G

ZDHHC14

7-0077-003

chr6:
157904997-157904997

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZDHHC14

SP0037672

chr6:
157803089-157803089

C

A

exonic

De novo

stopgain

NM_024630
NM_153746

c.C36A
c.C36A

p.C12X
p.C12X

46.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ZDHHC14

SP0061670

chr6:
158074487-158074487

T

G

intronic

De novo

-

Fu2022 E

ZDHHC14

SP0085275

chr6:
158093924-158093924

G

A

exonic

De novo

nonsynonymous SNV

NM_024630
NM_153746

c.G1237A
c.G1192A

p.A413T
p.A398T

12.99

1.213E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

ZDHHC14

1-0206-004

chr6:
158068273-158068278

ACTTTC

A

intronic

De novo

-

1.682E-5

Trost2022 G
Yuen2017 G

ZDHHC14

2-0286-003

chr6:
157820213-157820213

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZDHHC14

7-0055-003

chr6:
158188211-158188211

G

A

intergenic

De novo

-

Yuen2017 G

ZDHHC14

2-1386-003

chr6:
158016968-158016968

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZDHHC14

1-0885-003

chr6:
158032323-158032323

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZDHHC14

2-1215-003

chr6:
157927296-157927296

C

T

intronic

De novo

-

Yuen2017 G

ZDHHC14

3-0270-000

chr6:
158094104-158094104

T

C

exonic

De novo

nonsynonymous SNV

NM_024630
NM_153746

c.T1417C
c.T1372C

p.S473P
p.S458P

18.32

-

Tammimies2015 E
Trost2022 G
Zhou2022 GE

ZDHHC14

5-0015-003

chr6:
158072356-158072356

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZDHHC14

2-1258-003

chr6:
158066682-158066682

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZDHHC14

AU1933302

chr6:
157803455-157803455

A

T

intronic

De novo

-

Trost2022 G
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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