Variant Results

or

Results for "PRKCA"

Variant Events: 34

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

PRKCA

2-1258-004

chr17:
64363810-64363810

A

G

intronic

De novo

-

Yuen2017 G

PRKCA

7-0247-003

chr17:
64804671-64804671

G

A

UTR3

De novo

-

Yuen2017 G

PRKCA

2-1235-004

chr17:
64757783-64757783

C

T

intronic

De novo

-

Yuen2017 G

PRKCA

G01-GEA-105-HI

chr17:
64799956-64799956

A

G

intronic

De novo

-

Satterstrom2020 E

PRKCA

1-0273-004

chr17:
64649572-64649572

G

A

intronic

De novo

-

Yuen2017 G

PRKCA

1-0345-004

chr17:
64352198-64352198

G

A

intronic

De novo

-

Yuen2017 G

PRKCA

1-0395-003

chr17:
64688213-64688213

G

A

intronic

De novo

-

Yuen2017 G

PRKCA

2-1720-003

chr17:
64627971-64627971

T

A

intronic

De novo

-

Yuen2017 G

PRKCA

2-1297-004

chr17:
64600005-64600005

T

C

intronic

De novo

-

Yuen2017 G

PRKCA

13393.p1

chr17:
64583111-64583111

A

G

intronic

De novo

-

Turner2016 G

PRKCA

14015.p1

chr17:
64758161-64758161

A

T

intronic

De novo

-

Turner2016 G

PRKCA

1-0261-004

chr17:
64835973-64835973

C

T

intergenic

De novo

-

Yuen2017 G

PRKCA

2-1265-003

chr17:
64470399-64470399

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PRKCA

2-1366-003

chr17:
64587862-64587862

A

G

intronic

De novo

-

Yuen2017 G

PRKCA

1-0985-003

chr17:
64744827-64744827

T

C

intronic

De novo

-

Yuen2017 G

PRKCA

AU1404301

chr17:
64602153-64602153

G

A

intronic

De novo

-

Yuen2017 G

PRKCA

AU2792301

chr17:
64526502-64526502

G

T

intronic

De novo

-

Yuen2017 G

PRKCA

Lim2017:5027

chr17:
64684446-64684446

G

A

exonic

De novo

nonsynonymous SNV

NM_002737

c.G713A

p.R238Q

34.0

8.242E-6

Lim2017 E

PRKCA

08C78000

chr17:
64683232-64683232

G

A

exonic

De novo

nonsynonymous SNV

NM_002737

c.G533A

p.R178Q

13.94

-

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E

PRKCA

SSC05261

chr17:
64770121-64770121

C

T

exonic

De novo

nonsynonymous SNV

NM_002737

c.C1541T

p.P514L

26.8

2.471E-5

Lim2017 E

PRKCA

1-0271-003

chr17:
64637281-64637281

C

A

intronic

De novo

-

Yuen2017 G

PRKCA

5-0050-004

chr17:
64365098-64365098

A

T

intronic

De novo

-

Yuen2017 G

PRKCA

1-0215-006

chr17:
64530186-64530186

C

T

intronic

De novo

-

Yuen2017 G

PRKCA

AU4468301

chr17:
64344919-64344919

A

G

intronic

De novo

-

Yuen2017 G

PRKCA

14158.p1

chr17:
64637443-64637443

A

C

intronic

De novo

-

Satterstrom2020 E

PRKCA

1-0004-003

chr17:
64459262-64459262

C

CTT

intronic

De novo

-

Yuen2017 G

PRKCA

AU4410302

chr17:
64857856-64857856

C

T

intergenic

De novo

-

Yuen2017 G

PRKCA

2K001

chr17:
64641648-64641648

G

A

intronic

De novo

-

4.134E-5

Satterstrom2020 E

PRKCA

2-1107-003

chr17:
64334248-64334248

T

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PRKCA

12744.p1

chr17:
64684446-64684446

G

A

exonic

De novo

nonsynonymous SNV

NM_002737

c.G713A

p.R238Q

34.0

8.242E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G

PRKCA

2-1180-003

chr17:
64609584-64609584

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PRKCA

14261.p1

chr17:
64685129-64685129

C

T

exonic

De novo

synonymous SNV

NM_002737

c.C882T

p.D294D

-

8.397E-6

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

PRKCA

12465.p1

chr17:
64770121-64770121

C

T

exonic

De novo

nonsynonymous SNV

NM_002737

c.C1541T

p.P514L

26.8

2.471E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

PRKCA

5-0071-003

chr17:
64757321-64757321

C

G

intronic

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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