Variant Results

or

Results for "ZNF608"

Variant Events: 39

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

ZNF608

2-0102-004

chr5:
124322292-124322292

C

T

intergenic

De novo

-

Yuen2017 G

ZNF608

2-0214-004

chr5:
124108708-124108708

G

A

intergenic

De novo

-

Yuen2017 G

ZNF608

PN400455

chr5:
123980084-123980084

G

A

exonic

Unknown

nonsynonymous SNV

NM_020747

c.C3976T

p.R1326W

19.09

1.647E-5

Leblond2019 E

ZNF608

A10

chr5:
124043355-124043355

G

A

intronic

De novo

-

Wu2018 G

ZNF608

1-0358-003

chr5:
124174802-124174802

A

G

intergenic

De novo

-

Yuen2017 G

ZNF608

AU3517302

chr5:
124174609-124174609

C

T

intergenic

De novo

-

Yuen2017 G

ZNF608

AU3852301

chr5:
123977976-123977976

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF608

2-1644-004

chr5:
124073082-124073082

C

T

intronic

De novo

-

Yuen2017 G

ZNF608

AU2437302

chr5:
124188699-124188699

A

G

intergenic

De novo

-

Yuen2017 G

ZNF608

2-1425-004

chr5:
124298360-124298360

G

A

intergenic

De novo

-

Yuen2017 G

ZNF608

14590.p1

chr5:
124260150-124260150

G

A

intergenic

De novo

-

Turner2016 G

ZNF608

13951.p1

chr5:
124038971-124038971

G

A

intronic

De novo

-

Turner2016 G

ZNF608

A19

chr5:
124298389-124298389

G

A

intergenic

De novo

-

Wu2018 G

ZNF608

2-1306-004

chr5:
124083213-124083213

T

C

intergenic

De novo

-

Yuen2017 G

ZNF608

2-0126-004

chr5:
124278261-124278261

A

G

intergenic

De novo

-

Yuen2017 G

ZNF608

2-0323-003

chr5:
124318212-124318212

C

CCT

intergenic

De novo

-

Yuen2017 G

ZNF608

08C78655

chr5:
124036714-124036715

TG

T

exonic

De novo

frameshift deletion

NM_020747

c.1154delC

p.T385fs

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZNF608

PN400171

chr5:
123980084-123980084

G

A

exonic

Unknown

nonsynonymous SNV

NM_020747

c.C3976T

p.R1326W

19.09

1.647E-5

Leblond2019 E

ZNF608

AU2022302

chr5:
124259646-124259646

G

T

intergenic

De novo

-

Yuen2017 G

ZNF608

AU072005

chr5:
124231081-124231081

C

A

intergenic

De novo

-

Yuen2017 G

ZNF608

AU2162302

chr5:
124239227-124239227

G

T

intergenic

De novo

-

Yuen2017 G

ZNF608

1-0353-003

chr5:
124058237-124058240

GTGA

G

intronic

De novo

-

Yuen2017 G

ZNF608

3-0209-000

chr5:
124022110-124022110

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF608

AU3703302

chr5:
124048053-124048053

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF608

3-0409-000

chr5:
123974141-123974141

G

A

intronic

De novo

-

Trost2022 G

ZNF608

AU4211304

chr5:
124097401-124097401

C

T

intergenic

De novo

-

Yuen2017 G

ZNF608

MT_155.3

chr5:
123987748-123987748

G

A

intronic

De novo

-

Trost2022 G

ZNF608

AU2433302

chr5:
124129459-124129459

A

G

intergenic

De novo

-

Yuen2017 G

ZNF608

PN400108

chr5:
123980084-123980084

G

A

exonic

Unknown

nonsynonymous SNV

NM_020747

c.C3976T

p.R1326W

19.09

1.647E-5

Leblond2019 E

ZNF608

AU3724301

chr5:
124211867-124211867

A

G

intergenic

De novo

-

Yuen2017 G

ZNF608

2-1306-003

chr5:
124083213-124083213

T

C

intergenic

De novo

-

Yuen2017 G

ZNF608

AU4410302

chr5:
124297638-124297638

C

T

intergenic

De novo

-

Yuen2017 G

ZNF608

PN400170

chr5:
123980084-123980084

G

A

exonic

Unknown

nonsynonymous SNV

NM_020747

c.C3976T

p.R1326W

19.09

1.647E-5

Leblond2019 E

ZNF608

AU4079302

chr5:
124183575-124183582

TATTAATT

TATT

intergenic

De novo

-

Yuen2017 G

ZNF608

2-0197-004

chr5:
124023523-124023523

C

T

intronic

De novo

-

Trost2022 G

ZNF608

4-0088-003

chr5:
124063915-124063915

G

A

intronic

De novo

-

Trost2022 G

ZNF608

SP0038315

chr5:
124080539-124080539

A

G

exonic

De novo

synonymous SNV

NM_020747

c.T144C

p.F48F

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ZNF608

1-1224-003

chr5:
123990296-123990296

G

A

intronic

De novo

-

Trost2022 G

ZNF608

1-0382-004

chr5:
124008827-124008827

G

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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