Variant Results

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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	1-0271-003	chr4: 128828752-128828756	TTTTC	T	intergenic		De novo					-	-	Yuen2017 G
PLK4	Li2017:18434	chr4: 128811105-128811106	CA	C	exonic		Unknown	frameshift deletion	NM_001190799 NM_001190801 NM_014264	c.1449delA c.1422delA c.1545delA	p.S483fs p.S474fs p.S515fs	-	-	Li2017 T
PLK4	Li2017:23062	chr4: 128807561-128807563	CAG	C	exonic		Unknown	frameshift deletion	NM_001190799 NM_001190801 NM_014264	c.941_942del c.914_915del c.1037_1038del	p.Q314fs p.Q305fs p.Q346fs	-	-	Li2017 T
PLK4	Cukier2014:17342	chr4: 128817999-128817999	A	T	exonic		Unknown	nonsynonymous SNV	NM_001190799 NM_001190801 NM_014264	c.A2651T c.A2624T c.A2747T	p.Q884L p.Q875L p.Q916L	24.1	1.648E-5	Cukier2014 E

Source Variant Information

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Paper Information

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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.
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