Variant Results

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Results for "EPS8L2"

Variant Events: 8

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
EPS8L2	2-1508-004	chr11: 727820-727820	G	A	downstream		De novo					-	-	Yuen2017 G
EPS8L2	SP0074879	chr11: 726887-726887	T	C	intronic		De novo					-	-	Fu2022 E
EPS8L2	1-0305-004	chr11: 712117-712117	C	G	intronic		De novo					-	-	Yuen2017 G
EPS8L2	MT_151	chr11: 720080-720080	A	T	exonic		Paternal	nonsynonymous SNV	NM_022772	c.A184T	p.M62L	8.944	1.0E-4	Toma2013 E
EPS8L2	SP0059552	chr11: 721253-721253	G	A	intronic		De novo					-	-	Fu2022 E
EPS8L2	iHART3275	chr11: 723327-723327	A	AC	exonic		Maternal	frameshift insertion	NM_022772	c.1429dupC	p.P476fs	-	2.0E-4	Ruzzo2019 G
EPS8L2	iHART3278	chr11: 723327-723327	A	AC	exonic		Maternal	frameshift insertion	NM_022772	c.1429dupC	p.P476fs	-	2.0E-4	Ruzzo2019 G
EPS8L2	iHART2883	chr11: 726749-726749	G	GAGGTGAGCCCGCCC	exonic		Paternal	frameshift insertion	NM_022772	c.2065_2066insAGGTGAGCCCGCCC	p.E689fs	-	-	Ruzzo2019 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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