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Results for "PLK4"

Variant Events: 4

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
PLK4     Li2017:23062chr4:
128807561-128807563
CAGCexonicUnknownframeshift deletionNM_001190799
NM_001190801
NM_014264
c.941_942del
c.914_915del
c.1037_1038del
p.Q314fs
p.Q305fs
p.Q346fs
--Li2017 T
PLK4     1-0271-003chr4:
128828752-128828756
TTTTCTintergenicDe novo--Yuen2017 G
PLK4     Li2017:18434chr4:
128811105-128811106
CACexonicUnknownframeshift deletionNM_001190799
NM_001190801
NM_014264
c.1449delA
c.1422delA
c.1545delA
p.S483fs
p.S474fs
p.S515fs
--Li2017 T
PLK4     Cukier2014:17342chr4:
128817999-128817999
ATexonicUnknownnonsynonymous SNVNM_001190799
NM_001190801
NM_014264
c.A2651T
c.A2624T
c.A2747T
p.Q884L
p.Q875L
p.Q916L
24.11.648E-5Cukier2014 E
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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