Variant Results

or

Results for "PRKCQ"

Variant Events: 35

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

PRKCQ

2-1350-003

chr10:
6598413-6598413

A

AGAAGAAAAGAGAAGGGAAGAAAAG

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKCQ

2-1318-004

chr10:
6505726-6505726

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKCQ

111316

chr10:
6553075-6553075

C

T

exonic

nonsynonymous SNV

NM_001242413
NM_001282644
NM_006257

c.G200A
c.G92A
c.G200A

p.G67E
p.G31E
p.G67E

27.8

8.237E-6

Woodbury-Smith2022 E

PRKCQ

1-0045-004

chr10:
6598133-6598133

T

A

intronic

De novo

-

Yuen2017 G

PRKCQ

1-0408-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PRKCQ

09C95778

chr10:
6470365-6470365

T

C

intronic

De novo

-

1.692E-5

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

PRKCQ

1-0627-006

chr10:
6500601-6500601

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKCQ

1-0868-003

chr10:
6592112-6592112

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKCQ

5-0061-003

chr10:
6598413-6598413

A

AGAAGAAAAGAGAAGGGAAGAAAAG

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKCQ

72-1397

chr10:
6527171-6527171

G

T

exonic

Inherited

nonsynonymous SNV

NM_001282645
NM_001242413
NM_001282644
NM_006257

c.C586A
c.C961A
c.C853A
c.C961A

p.P196T
p.P321T
p.P285T
p.P321T

8.32

1.0E-4

Patowary2019 E

PRKCQ

09C89982

chr10:
6540488-6540488

C

T

exonic

De novo

nonsynonymous SNV

NM_001282645
NM_001242413
NM_001282644
NM_006257

c.G37A
c.G412A
c.G304A
c.G412A

p.G13S
p.G138S
p.G102S
p.G138S

10.77

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PRKCQ

1-0019-004

chr10:
6598415-6598415

A

AGAG

intronic

De novo

-

Yuen2017 G

PRKCQ

AU4376301

chr10:
6543573-6543573

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKCQ

3-0800-000

chr10:
6502137-6502138

AT

A

intronic

De novo

-

Trost2022 G

PRKCQ

2-1815-003

chr10:
6509375-6509375

G

C

intronic

De novo

-

Trost2022 G

PRKCQ

1-0589-003

chr10:
6488187-6488187

G

T

intronic

De novo

-

Trost2022 G

PRKCQ

2-1519-003

chr10:
6577367-6577367

A

T

intronic

De novo

-

Trost2022 G

PRKCQ

1-1008-003

chr10:
6596800-6596800

C

T

intronic

De novo

-

Trost2022 G

PRKCQ

MSSNG00356-003

chr10:
6567134-6567134

G

A

intronic

De novo

-

Trost2022 G

PRKCQ

MSSNG00040-003

chr10:
6576757-6576757

T

G

intronic

De novo

-

Trost2022 G

PRKCQ

7-0329-003

chr10:
6533306-6533306

C

A

intronic

De novo

-

Trost2022 G

PRKCQ

2-1644-003

chr10:
6598136-6598136

A

C

intronic

De novo

-

Yuen2017 G

PRKCQ

MSSNG00174-003

chr10:
6536650-6536650

A

G

intronic

De novo

-

Trost2022 G

PRKCQ

7-0460-003

chr10:
6516035-6516035

G

A

intronic

De novo

-

Trost2022 G

PRKCQ

MSSNG00064-003

chr10:
6526958-6526958

G

T

intronic

De novo

-

Trost2022 G

PRKCQ

1-0329-004

chr10:
6502194-6502194

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKCQ

3-0484-000

chr10:
6598413-6598413

A

AG

intronic

De novo

-

Trost2022 G

PRKCQ

MSSNG00421-003

chr10:
6613060-6613060

G

A

intronic

De novo

-

Trost2022 G

PRKCQ

2-0300-003

chr10:
6598178-6598181

GGCC

AGGG

intronic

De novo

-

Trost2022 G

PRKCQ

1-0405-003

chr10:
6598180-6598181

CC

AA

intronic

De novo

-

Trost2022 G

PRKCQ

1-0405-003

chr10:
6598170-6598175

TCACTT

GGAAGG

intronic

De novo

-

Trost2022 G

PRKCQ

2-0300-003

chr10:
6598170-6598175

TCACTT

AAGAAG

intronic

De novo

-

Trost2022 G

PRKCQ

7-0233-004

chr10:
6597237-6597237

C

CAG

intronic

De novo

-

Trost2022 G

PRKCQ

1-0414-005

chr10:
6598121-6598124

AGGG

GTGC

intronic

De novo

-

Trost2022 G

PRKCQ

AU3122301

chr10:
6540488-6540488

C

T

exonic

De novo

nonsynonymous SNV

NM_001282645
NM_001242413
NM_001282644
NM_006257

c.G37A
c.G412A
c.G304A
c.G412A

p.G13S
p.G138S
p.G102S
p.G138S

10.77

-

Yuen2017 G
Zhou2022 GE

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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