Variant Results

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Results for "CEP78"

Variant Events: 6

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
CEP78	AU4463303	chr9: 80886202-80886202	T	C	intergenic		De novo					-	-	Yuen2017 G
CEP78	74-0752	chr9: 80877854-80877854	A	C	exonic		Inherited	nonsynonymous SNV	NM_001098802 NM_032171	c.A1415C c.A1415C	p.K472T p.K472T	18.01	4.502E-5	Patowary2019 E
CEP78	AU4314302	chr9: 80894731-80894731	C	T	intergenic		De novo					-	-	Yuen2017 G
CEP78	DEASD_2142_001	chr9: 80851419-80851419	C	T	exonic		De novo	synonymous SNV	NM_001098802 NM_032171	c.C153T c.C153T	p.R51R p.R51R	-	-	Fu2022 E
CEP78	AU4069302	chr9: 80889695-80889695	A	G	intergenic		De novo					-	-	Yuen2017 G
CEP78	1-0007-003	chr9: 80875865-80875884	TTTTGTTTGTTTGTTTGTTT	TTTTGTTTGTTTGTTT	intronic		De novo					-	-	Yuen2017 G

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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