Variant Results

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or

Results for "CSNK2A1"

Variant Events: 19

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

CSNK2A1

1-0539-003

chr20:
501271-501271

G

GTA

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CSNK2A1

Leuven_319424

chr20:
476433-476433

C

T

exonic

Unknown

nonsynonymous SNV

NM_177560
NM_001895
NM_177559

c.G32A
c.G440A
c.G440A

p.C11Y
p.C147Y
p.C147Y

25.2

-

Wang2020 T

CSNK2A1

AU069603

chr20:
485592-485592

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CSNK2A1

SSC02462

chr20:
472926-472926

T

C

exonic

De novo

nonsynonymous SNV

NM_177560
NM_001895
NM_177559

c.A185G
c.A593G
c.A593G

p.K62R
p.K198R
p.K198R

30.0

-

Fu2022 E
Lim2017 E
Trost2022 G

CSNK2A1

11097.p1

chr20:
472926-472926

T

C

exonic

Unknown, De novo

nonsynonymous SNV

NM_177560
NM_001895
NM_177559

c.A185G
c.A593G
c.A593G

p.K62R
p.K198R
p.K198R

30.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE

CSNK2A1

1-0453-003

chr20:
507183-507183

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CSNK2A1

AU055603

chr20:
504790-504790

G

A

intronic

De novo

-

-

Trost2022 G

CSNK2A1

5-0076-003

chr20:
486731-486731

A

G

intronic

De novo

-

-

Trost2022 G

CSNK2A1

1-0481-003

chr20:
489117-489117

C

T

exonic

Unknown, De novo

nonsynonymous SNV

NM_001895
NM_177559

c.G79A
c.G79A

p.E27K
p.E27K

27.1

-

Trost2022 G
Wang2020 T
Yuen2017 G
Zhou2022 GE

CSNK2A1

SF0141690.p1

chr20:
485859-485859

T

C

exonic

nonsynonymous SNV

NM_001895
NM_177559

c.A116G
c.A116G

p.Y39C
p.Y39C

16.87

-

Wang2020 T

CSNK2A1

SF0012788.p1

chr20:
468070-468070

C

G

splicing

splicing

24.1

-

Wang2020 T

CSNK2A1

1-0065-005

chr20:
580316-580316

C

CTATA

intergenic

De novo

-

-

Yuen2017 G

CSNK2A1

1-0373-003

chr20:
486048-486048

G

GGCT

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CSNK2A1

SP0012788

chr20:
468070-468070

C

G

splicing

De novo

splicing

24.1

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CSNK2A1

1-0627-005

chr20:
477885-477885

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CSNK2A1

SP0141690

chr20:
485859-485859

T

C

exonic

De novo

nonsynonymous SNV

NM_001895
NM_177559

c.A116G
c.A116G

p.Y39C
p.Y39C

16.87

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

CSNK2A1

AU026604

chr20:
484771-484771

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CSNK2A1

Leuven2_61644340

chr20:
468128-468128

G

A

exonic

De novo

stopgain

NM_177560
NM_001895
NM_177559

c.C508T
c.C916T
c.C916T

p.R170X
p.R306X
p.R306X

41.0

-

Wang2020 T

CSNK2A1

ASC_11466-1

chr20:
472926-472926

T

C

exonic

De novo

nonsynonymous SNV

NM_177560
NM_001895
NM_177559

c.A185G
c.A593G
c.A593G

p.K62R
p.K198R
p.K198R

30.0

-

Fu2022 E

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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