Variant Results

or

Results for "PRKCZ"

Variant Events: 29

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

PRKCZ

3-0099-001A

chr1:
2020824-2020824

G

A

intronic

De novo

-

Trost2022 G

PRKCZ

3-0070-000

chr1:
2011373-2011373

G

A

intronic

De novo

-

Trost2022 G

PRKCZ

SP0039609

chr1:
2082363-2082363

T

C

exonic

De novo

synonymous SNV

NM_001033581
NM_001033582
NM_001242874
NM_002744

c.T273C
c.T273C
c.T510C
c.T822C

p.N91N
p.N91N
p.N170N
p.N274N

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PRKCZ

3-0706-000A

chr1:
2034023-2034023

G

A

intronic

De novo

-

Trost2022 G

PRKCZ

SP0094371

chr1:
2106739-2106739

T

C

exonic

De novo

nonsynonymous SNV

NM_001033581
NM_001033582
NM_001242874
NM_002744

c.T1013C
c.T1013C
c.T1250C
c.T1562C

p.I338T
p.I338T
p.I417T
p.I521T

18.28

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PRKCZ

5-0043-003

chr1:
2033824-2033824

T

G

intronic

De novo

-

Trost2022 G

PRKCZ

G01-GEA-44-HI

chr1:
2066753-2066753

C

T

exonic

De novo

synonymous SNV

NM_001242874
NM_002744

c.C75T
c.C387T

p.N25N
p.N129N

-

2.502E-5

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G

PRKCZ

AU075703

chr1:
1996978-1996978

C

T

intronic

De novo

-

Yuen2017 G

PRKCZ

AUTPGX_1020

chr1:
2009762-2009762

C

CAT

intronic

De novo

-

Trost2022 G

PRKCZ

2-1434-003

chr1:
2038248-2038248

G

A

intronic

De novo

-

Yuen2017 G

PRKCZ

3-0723-000

chr1:
1991420-1991420

G

A

intronic

De novo

-

Trost2022 G

PRKCZ

2-1775-003

chr1:
2094593-2094593

C

G

intronic

De novo

-

Trost2022 G

PRKCZ

1-1137-003

chr1:
2091364-2091364

G

A

intronic

De novo

-

Trost2022 G

PRKCZ

7-0396-003

chr1:
2107830-2107830

G

A

intronic

De novo

-

Trost2022 G

PRKCZ

4-0062-003

chr1:
2101289-2101299

CAGGGAGCTCA

C

intronic

De novo

-

Trost2022 G

PRKCZ

MSSNG00031-003

chr1:
2062161-2062161

G

A

intronic

De novo

-

Trost2022 G

PRKCZ

AU071204

chr1:
2056991-2056991

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKCZ

MT_54.3

chr1:
2036636-2036636

G

T

intronic

De novo

-

Trost2022 G

PRKCZ

MT_19.3

chr1:
2067257-2067257

C

T

intronic

De novo

-

Trost2022 G

PRKCZ

MSSNG00434-003

chr1:
2063068-2063068

C

T

intronic

De novo

-

Trost2022 G

PRKCZ

13143.p1

chr1:
2058479-2058479

C

T

intronic

De novo

-

Wilfert2021 G

PRKCZ

1-0019-004

chr1:
2094966-2094966

G

A

intronic

De novo

-

Yuen2017 G

PRKCZ

AU3761302

chr1:
2109901-2109901

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKCZ

2-1153-003

chr1:
2038248-2038248

G

A

intronic

De novo

-

Yuen2017 G

PRKCZ

2-1303-003

chr1:
2049524-2049524

C

T

intronic

De novo

-

Yuen2017 G

PRKCZ

14692.p1

chr1:
2075646-2075646

C

T

intronic

De novo

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

PRKCZ

REACH000089

chr1:
2105416-2105416

G

A

exonic

De novo

nonsynonymous SNV

NM_001033581
NM_001033582
NM_001242874
NM_002744

c.G817A
c.G817A
c.G1054A
c.G1366A

p.D273N
p.D273N
p.D352N
p.D456N

23.0

8.328E-6

Antaki2022 GE
Trost2022 G
Zhou2022 GE

PRKCZ

AU3911302

chr1:
2082066-2082066

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKCZ

SSC12193

chr1:
2075646-2075646

C

T

intronic

De novo

-

Fu2022 E
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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