Variant Results

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Results for "ELOVL1"

Variant Events: 7

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
ELOVL1	SP0129491	chr1: 43829837-43829837	G	A	intronic		De novo					-	8.25E-6	Fu2022 E
ELOVL1	12579.p1	chr1: 43830302-43830302	C	T	exonic		De novo	nonsynonymous SNV	NM_001256401 NM_001256402 NM_001256399 NM_022821	c.G311A c.G149A c.G392A c.G392A	p.R104Q p.R50Q p.R131Q p.R131Q	25.3	-	Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E
ELOVL1	1842001	chr1: 43830669-43830669	G	A	exonic		De novo	nonsynonymous SNV	NM_001256402 NM_001256399 NM_022821	c.C5T c.C248T c.C248T	p.S2L p.S83L p.S83L	22.7	-	Fu2022 E Satterstrom2020 E
ELOVL1	AU3721301	chr1: 43847450-43847450	G	A	intergenic		De novo					-	-	Yuen2017 G
ELOVL1	11878.p1	chr1: 43829811-43829811	A	C	intronic		De novo					-	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
ELOVL1	SSC02936	chr1: 43829811-43829811	A	C	intronic		De novo					-	-	Fu2022 E
ELOVL1	SSC05512	chr1: 43830302-43830302	C	T	exonic		De novo	nonsynonymous SNV	NM_001256401 NM_001256402 NM_001256399 NM_022821	c.G311A c.G149A c.G392A c.G392A	p.R104Q p.R50Q p.R131Q p.R131Q	25.3	-	Fu2022 E Lim2017 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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