Variant Results

or

Results for "PRKCI"

Variant Events: 39

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

PRKCI

SP0100316

chr3:
169988210-169988210

G

C

exonic

De novo

nonsynonymous SNV

NM_002740

c.G452C

p.R151P

13.84

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PRKCI

2-1283-004

chr3:
169948063-169948063

C

T

intronic

De novo

-

Yuen2017 G

PRKCI

2-0242-005

chr3:
169950385-169950385

T

C

intronic

De novo

-

Yuen2017 G

PRKCI

7-0253-005

chr3:
170047117-170047117

T

G

intergenic

De novo

-

Yuen2017 G

PRKCI

1-0045-003

chr3:
169950385-169950385

T

C

intronic

De novo

-

Yuen2017 G

PRKCI

A26

chr3:
170047047-170047047

T

A

intergenic

De novo

-

Wu2018 G

PRKCI

1-0209-003

chr3:
170019906-170019906

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKCI

AU030103

chr3:
169954137-169954137

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PRKCI

2-1620-004

chr3:
169947976-169947977

CA

TG

intronic

De novo

-

Trost2022 G

PRKCI

2-1620-004

chr3:
169947982-169947984

CTT

TTC

intronic

De novo

-

Trost2022 G

PRKCI

SP0034904

chr3:
169940579-169940579

C

G

intronic

De novo

-

Trost2022 G

PRKCI

2-1433-004

chr3:
169948221-169948221

T

C

intronic

De novo

-

Trost2022 G

PRKCI

2-1357-003

chr3:
170037328-170037328

A

G

intergenic

De novo

-

Yuen2017 G

PRKCI

1-0200-004

chr3:
169948221-169948221

T

C

intronic

De novo

-

Trost2022 G

PRKCI

2-1433-004

chr3:
169948217-169948217

G

C

intronic

De novo

-

Trost2022 G

PRKCI

1-0200-004

chr3:
169948217-169948217

G

C

intronic

De novo

-

Trost2022 G

PRKCI

2-1433-004

chr3:
169948211-169948211

T

C

intronic

De novo

-

Trost2022 G

PRKCI

1-0200-004

chr3:
169948211-169948211

T

C

intronic

De novo

-

Trost2022 G

PRKCI

2-1620-004

chr3:
169947987-169947987

T

TC

intronic

De novo

-

Trost2022 G

PRKCI

2-1433-004

chr3:
169948200-169948200

C

CAAT

intronic

De novo

-

Trost2022 G

PRKCI

4-0098-003

chr3:
169979718-169979718

A

G

intronic

De novo

-

Trost2022 G

PRKCI

2-1089-003

chr3:
170037447-170037447

A

ATTTTTTTTTTTTTTT

intergenic

De novo

-

Yuen2017 G

PRKCI

AU1448303

chr3:
169982406-169982406

C

T

intronic

De novo

-

Trost2022 G

PRKCI

MSSNG00204-003

chr3:
169959628-169959628

T

C

intronic

De novo

-

Trost2022 G

PRKCI

5-5046-007

chr3:
169971530-169971530

G

C

intronic

De novo

-

Trost2022 G

PRKCI

2-1433-004

chr3:
169951004-169951008

TTCTT

CCGGCCC

intronic

De novo

-

Trost2022 G

PRKCI

4-0064-004

chr3:
169951005-169951008

TCTT

CGCGCCCGGCCC

intronic

De novo

-

Trost2022 G

PRKCI

AU030104

chr3:
169954137-169954137

C

T

intronic

De novo

-

Yuen2017 G

PRKCI

2-1433-004

chr3:
169948228-169948228

C

T

intronic

De novo

-

Trost2022 G

PRKCI

2-0149-003

chr3:
169950385-169950385

T

C

intronic

De novo

-

Yuen2017 G

PRKCI

1-0200-004

chr3:
169948228-169948228

C

T

intronic

De novo

-

Trost2022 G

PRKCI

3-0080-000

chr3:
169987872-169987872

C

G

intronic

De novo

-

Yuen2017 G

PRKCI

14370.p1

chr3:
170010785-170010785

C

T

intronic

De novo

-

Turner2016 G

PRKCI

7-0371-003

chr3:
170022716-170022716

T

C

UTR3

De novo

-

Trost2022 G

PRKCI

2-1379-003

chr3:
170044052-170044052

T

G

intergenic

De novo

-

Yuen2017 G

PRKCI

3-0398-000

chr3:
169982934-169982934

G

A

intronic

De novo

-

Trost2022 G

PRKCI

PN400108

chr3:
170011257-170011257

G

A

exonic

Unknown

nonsynonymous SNV

NM_002740

c.G1378A

p.D460N

34.0

-

Leblond2019 E

PRKCI

7-0363-003

chr3:
170004613-170004613

T

TA

intronic

De novo

-

Trost2022 G

PRKCI

1-0652-004

chr3:
170037375-170037375

A

C

intergenic

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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