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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     1-0366-003chr9:
131482852-131482852
CTexonicDe novosynonymous SNVNM_013355c.C2637Tp.F879F-1.697E-5Yuen2015 G
PKN3     SP0100876chr9:
131469395-131469395
GTintronicDe novo--Fu2022 E
Trost2022 G
PKN3     SP0062956chr9:
131469675-131469675
GAexonicDe novononsynonymous SNVNM_013355c.G826Ap.A276T12.916.088E-5Fu2022 E
Trost2022 G
Zhou2022 GE
PKN3     1-0092-004chr9:
131480610-131480610
CTexonicDe novosynonymous SNVNM_013355c.C1992Tp.Y664Y-2.475E-5Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE
PKN3     1023chr9:
131478836-131478836
CAintronicDe novo--Trost2022 G
PKN3     1-0052-003chr9:
131477555-131477555
CAintronicDe novo--Trost2022 G
Yuen2017 G
PKN3     SP0236962chr9:
131475782-131475782
GAexonicDe novononsynonymous SNVNM_013355c.G1097Ap.R366H27.98.287E-6Trost2022 G
PKN3     mAGRE5274chr9:
131482857-131482859
TTGTexonicMaternalframeshift deletionNM_013355c.2643_2644delp.F881fs--Cirnigliaro2023 G
PKN3     SP0070866chr9:
131482881-131482881
CTexonicDe novononsynonymous SNVNM_013355c.C2666Tp.P889L18.03-Trost2022 G
Trost2022 G
Zhou2022 GE
Source Variant Information

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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 notesView
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