Variant Results

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Results for "NOX1"

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
NOX1	iHART1075	chrX: 100117507-100117508	GT	G	exonic		Unknown	frameshift deletion	NM_001271815 NM_007052 NM_013955	c.433delA c.544delA c.544delA	p.T145fs p.T182fs p.T182fs	-	1.147E-5	Ruzzo2019 G
NOX1	iHART1076	chrX: 100117507-100117508	GT	G	exonic		Maternal	frameshift deletion	NM_001271815 NM_007052 NM_013955	c.433delA c.544delA c.544delA	p.T145fs p.T182fs p.T182fs	-	1.147E-5	Ruzzo2019 G
NOX1	5-0074-003	chrX: 100108227-100108242	TTTCTTTCCTTCCTTC	TTTC	intronic		De novo					-	-	Yuen2017 G
NOX1	AU3839302	chrX: 100136014-100136021	TTTACTTA	TTTA	intergenic		De novo					-	-	Yuen2017 G
NOX1	AU070811	chrX: 100118562-100118562	G	A	exonic		Unknown	nonsynonymous SNV	NM_007052 NM_013955	c.C164T c.C164T	p.A55V p.A55V	18.21	9.304E-5	Chahrour2012 E
NOX1	mAGRE1076	chrX: 100117507-100117508	GT	G	exonic		Maternal	frameshift deletion	NM_001271815 NM_007052 NM_013955	c.433delA c.544delA c.544delA	p.T145fs p.T182fs p.T182fs	-	1.147E-5	Cirnigliaro2023 G
NOX1	mAGRE1075	chrX: 100117507-100117508	GT	G	exonic		Unknown	frameshift deletion	NM_001271815 NM_007052 NM_013955	c.433delA c.544delA c.544delA	p.T145fs p.T182fs p.T182fs	-	1.147E-5	Cirnigliaro2023 G
NOX1	1-0485-003	chrX: 100155980-100155980	C	A	intergenic		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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