Variant Results

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Results for "ESS2"

Variant Events: 5

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
ESS2	1-0213-004	chr22: 19127328-19127328	G	A	intronic		De novo					-	1.0E-4	Trost2022 G Yuen2017 G
ESS2	11808.p1	chr22: 19127459-19127459	T	C	exonic		Mosaic, De novo	nonsynonymous SNV	NM_022719	c.A479G	p.N160S	25.3	-	Dou2017 E Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Sanders2012 E Satterstrom2020 E Wilfert2021 G Zhou2022 GE
ESS2	SSC03232	chr22: 19127459-19127459	T	C	exonic		De novo	nonsynonymous SNV	NM_022719	c.A479G	p.N160S	25.3	-	Fu2022 E Lim2017 E Trost2022 G
ESS2	1-0213-003	chr22: 19127328-19127328	G	A	intronic		De novo					-	1.0E-4	Yuen2016 G
ESS2	Uddin2014:9	chr22: 19127459-19127459	T	C	exonic		De novo	nonsynonymous SNV	NM_022719	c.A479G	p.N160S	25.3	-	Uddin2014 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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