Variant Results

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Results for "LRRC8E"

Variant Events: 4

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
LRRC8E	SSC10642	chr19: 7965487-7965487	G	A	exonic		De novo	nonsynonymous SNV	NM_001268285 NM_025061 NM_001268284	c.G1693A c.G2080A c.G2080A	p.E565K p.E694K p.E694K	19.08	1.672E-5	Lim2017 E
LRRC8E	14252.p1	chr19: 7965487-7965487	G	A	exonic		De novo	nonsynonymous SNV	NM_001268285 NM_025061 NM_001268284	c.G1693A c.G2080A c.G2080A	p.E565K p.E694K p.E694K	19.08	1.672E-5	Ji2016 E Krumm2015 E Satterstrom2020 E
LRRC8E	Cukier2014:7506	chr19: 7964482-7964482	G	A	exonic		Unknown	nonsynonymous SNV	NM_001268285 NM_025061 NM_001268284	c.G688A c.G1075A c.G1075A	p.V230I p.V359I p.V359I	19.53	0.0021	Cukier2014 E
LRRC8E	MT_76	chr19: 7965638-7965640	TCA	T	exonic		Maternal	frameshift deletion	NM_001268285 NM_025061 NM_001268284	c.1845_1846del c.2232_2233del c.2232_2233del	p.L615fs p.L744fs p.L744fs	-	-	Toma2013 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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