Variant Results

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Results for "ERLEC1"

Variant Events: 6

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
ERLEC1	1-0757-003	chr2: 54018215-54018215	A	G	intronic		De novo					-	-	Trost2022 G Trost2022 G Yuen2017 G
ERLEC1	14427.p1	chr2: 54040122-54040122	A	G	exonic		De novo	nonsynonymous SNV	NM_001127398 NM_001127397 NM_015701	c.A976G c.A1138G c.A1138G	p.T326A p.T380A p.T380A	18.95	-	Ji2016 E Krumm2015 E Satterstrom2020 E Zhou2022 GE
ERLEC1	13693.p1	chr2: 54024609-54024609	G	T	intronic		Mosaic					-	-	Dou2017 E
ERLEC1	MSSNG00339-004	chr2: 54016619-54016619	A	G	intronic		De novo					-	-	Trost2022 G Trost2022 G
ERLEC1	MSSNG00361-003	chr2: 54032111-54032111	C	A	intronic		De novo					-	-	Trost2022 G Trost2022 G
ERLEC1	SSC11341	chr2: 54040122-54040122	A	G	exonic		De novo	nonsynonymous SNV	NM_001127398 NM_001127397 NM_015701	c.A976G c.A1138G c.A1138G	p.T326A p.T380A p.T380A	18.95	-	Fu2022 E Lim2017 E Trost2022 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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