Variant Results

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Results for "ENOX2"

Variant Events: 8

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
ENOX2	5-0065-003	chrX: 129934503-129934503	T	A	intronic		De novo					-	-	Yuen2017 G
ENOX2	1-0495-003	chrX: 130133036-130133036	T	A	intergenic		De novo					-	-	Yuen2017 G
ENOX2	AU4093304	chrX: 129887252-129887254	CTT	CT	intronic		De novo					-	-	Yuen2017 G
ENOX2	AU070811	chrX: 129765508-129765508	C	T	exonic		Unknown	nonsynonymous SNV	NM_001281736 NM_006375 NM_182314	c.G1462A c.G1462A c.G1549A	p.E488K p.E488K p.E517K	12.86	9.0E-4	Chahrour2012 E
ENOX2	1-0556-003	chrX: 130040684-130040699	TACACACACACACACA	TACACACACACACA	intergenic		De novo					-	-	Yuen2017 G
ENOX2	AU4310301	chrX: 129758881-129758888	TAACAACA	TAACA	UTR3		De novo					-	-	Yuen2017 G
ENOX2	AU0039303	chrX: 129959366-129959366	A	T	intronic		De novo					-	-	Yuen2017 G
ENOX2	AU056204	chrX: 129762891-129762892	CA	C	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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