Variant Results

or

or

Results for "PKN3"

Variant Events: 9

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
PKN3	1-0366-003	chr9: 131482852-131482852	C	T	exonic		De novo	synonymous SNV	NM_013355	c.C2637T	p.F879F	-	1.697E-5	Yuen2015 G
PKN3	SP0100876	chr9: 131469395-131469395	G	T	intronic		De novo					-	-	Fu2022 E Trost2022 G
PKN3	SP0062956	chr9: 131469675-131469675	G	A	exonic		De novo	nonsynonymous SNV	NM_013355	c.G826A	p.A276T	12.91	6.088E-5	Fu2022 E Trost2022 G Zhou2022 GE
PKN3	SP0070866	chr9: 131482881-131482881	C	T	exonic		De novo	nonsynonymous SNV	NM_013355	c.C2666T	p.P889L	18.03	-	Trost2022 G Trost2022 G Zhou2022 GE
PKN3	1-0092-004	chr9: 131480610-131480610	C	T	exonic		De novo	synonymous SNV	NM_013355	c.C1992T	p.Y664Y	-	2.475E-5	Trost2022 G Yuen2015 G Yuen2017 G Zhou2022 GE
PKN3	1023	chr9: 131478836-131478836	C	A	intronic		De novo					-	-	Trost2022 G
PKN3	1-0052-003	chr9: 131477555-131477555	C	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
PKN3	SP0236962	chr9: 131475782-131475782	G	A	exonic		De novo	nonsynonymous SNV	NM_013355	c.G1097A	p.R366H	27.9	8.287E-6	Trost2022 G
PKN3	mAGRE5274	chr9: 131482857-131482859	TTG	T	exonic		Maternal	frameshift deletion	NM_013355	c.2643_2644del	p.F881fs	-	-	Cirnigliaro2023 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
	More