Variant Results

or

Results for "CSNK1E"

Variant Events: 14

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

CSNK1E

Krgovic2022:041619

chr22:
38699015-38699015

C

A

splicing

Unknown

splicing

17.69

-

Krgovic2022 E

CSNK1E

SP0099141

chr22:
38696655-38696655

G

A

intronic

De novo

-

Fu2022 E

CSNK1E

AU3865301

chr22:
38688204-38688204

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CSNK1E

7-0250-003

chr22:
38711339-38711339

C

A

intronic

De novo

-

Yuen2017 G

CSNK1E

SP0065034

chr22:
38696765-38696765

C

T

exonic

De novo

nonsynonymous SNV

NM_001894
NM_152221
NM_001289912

c.G529A
c.G529A
c.G529A

p.A177T
p.A177T
p.A177T

26.1

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CSNK1E

AU2525302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

CSNK1E

SMHC01044s000

chr22:
38699143-38699143

C

T

exonic

De novo

nonsynonymous SNV

NM_001894
NM_152221
NM_001289912

c.G187A
c.G187A
c.G187A

p.V63M
p.V63M
p.V63M

18.68

-

Yuan2023 E

CSNK1E

SP0046667

chr22:
38695930-38695930

G

T

exonic

nonsynonymous SNV

NM_001894
NM_152221
NM_001289912

c.C706A
c.C706A
c.C706A

p.P236T
p.P236T
p.P236T

23.5

-

Zhou2022 GE

CSNK1E

ASDFI_1583

chr22:
38694937-38694937

C

T

exonic

De novo

nonsynonymous SNV

NM_001894
NM_152221
NM_001289912

c.G739A
c.G739A
c.G739A

p.E247K
p.E247K
p.E247K

27.0

-

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

CSNK1E

AU109A

chr22:
38696888-38696888

T

A

exonic

De novo

nonsynonymous SNV

NM_001894
NM_152221
NM_001289912

c.A406T
c.A406T
c.A406T

p.M136L
p.M136L
p.M136L

33.0

-

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

CSNK1E

5-5202-003

chr22:
38696762-38696762

G

A

exonic

De novo

nonsynonymous SNV

NM_001894
NM_152221
NM_001289912

c.C532T
c.C532T
c.C532T

p.R178C
p.R178C
p.R178C

20.6

-

Trost2022 G
Zhou2022 GE

CSNK1E

REACH000519

chr22:
38696762-38696762

G

A

exonic

nonsynonymous SNV

NM_001894
NM_152221
NM_001289912

c.C532T
c.C532T
c.C532T

p.R178C
p.R178C
p.R178C

20.6

-

Antaki2022 GE

CSNK1E

7-0250-003A

chr22:
38711339-38711339

C

A

intronic

De novo

-

Trost2022 G

CSNK1E

1-0589-003

chr22:
38687865-38687865

T

G

UTR3

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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