Variant Results

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Results for "NPBWR2"

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
NPBWR2	AU009903	chr20: 62775340-62775340	C	T	intergenic		De novo					-	-	Yuen2017 G
NPBWR2	2-1522-003	chr20: 62776232-62776232	A	G	intergenic		De novo					-	-	Yuen2017 G
NPBWR2	AU1019301	chr20: 62737967-62737967	G	A	exonic		Unknown	nonsynonymous SNV	NM_005286	c.C218T	p.A73V	16.22	0.0022	Chahrour2012 E
NPBWR2	2-1374-003	chr20: 62786562-62786562	C	T	intergenic		De novo					-	-	Yuen2017 G
NPBWR2	2-0306-004	chr20: 62737215-62737215	G	A	exonic		De novo	nonsynonymous SNV	NM_005286	c.C970T	p.R324W	15.2	7.65E-5	Yuen2017 G Zhou2022 GE
NPBWR2	ASC_11374-1	chr20: 62737521-62737521	C	T	exonic		De novo	nonsynonymous SNV	NM_005286	c.G664A	p.V222M	5.946	1.693E-5	Fu2022 E
NPBWR2	2-0306-003	chr20: 62737215-62737215	G	A	exonic		De novo	nonsynonymous SNV	NM_005286	c.C970T	p.R324W	15.2	7.65E-5	Yuen2016 G
NPBWR2	AU1019301	chr20: 62737383-62737383	C	T	exonic		Unknown	nonsynonymous SNV	NM_005286	c.G802A	p.V268M	16.72	2.0E-4	Chahrour2012 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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