Variant Results

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Results for "GNS"

Variant Events: 9

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
GNS	7-0222-003	chr12: 65151402-65151407	ACTCTC	ACTC	intronic		De novo					-	-	Yuen2017 G
GNS	AU3761302	chr12: 65106236-65106236	A	G	downstream		De novo					-	-	Yuen2017 G
GNS	08C74421	chr12: 65113956-65113956	C	T	exonic		De novo	nonsynonymous SNV	NM_002076	c.G1426A	p.V476I	25.2	-	Satterstrom2020 E
GNS	14233.p1	chr12: 65137026-65137026	G	A	exonic		Mosaic, De novo	synonymous SNV	NM_002076	c.C687T	p.I229I	8.013	8.239E-6	Dou2017 E Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
GNS	12826.p1	chr12: 65122784-65122784	G	A	exonic		De novo	synonymous SNV	NM_002076	c.C1152T	p.Y384Y	-	2.474E-5	Iossifov2012 E Iossifov2014 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E
GNS	13444.p1	chr12: 65152976-65152976	T	C	exonic		De novo	synonymous SNV	NM_002076	c.A81G	p.L27L	-	-	Satterstrom2020 E
GNS	AU076508	chr12: 65163799-65163799	C	T	intergenic		De novo					-	-	Yuen2017 G
GNS	AU017703	chr12: 65168892-65168892	T	G	intergenic		De novo					-	-	Yuen2017 G
GNS	AU3398301	chr12: 65150820-65150820	G	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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