Variant Results

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Results for "EIF2B2"

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
EIF2B2	iHART2837	chr14: 75470384-75470384	G	T	exonic		Paternal	stopgain	NM_014239	c.G415T	p.E139X	34.0	-	Ruzzo2019 G
EIF2B2	MSSNG00004-004	chr14: 75476387-75476388	CG	C	downstream		De novo					-	-	Trost2022 G
EIF2B2	PN400267	chr14: 75472570-75472570	G	T	exonic		Unknown	nonsynonymous SNV	NM_014239	c.G599T	p.G200V	29.3	2.0E-4	Leblond2019 E
EIF2B2	mAGRE5703	chr14: 75472575-75472576	GA	G	exonic		Paternal	frameshift deletion	NM_014239	c.605delA	p.E202fs	-	8.236E-6	Cirnigliaro2023 G
EIF2B2	mAGRE2837	chr14: 75470384-75470384	G	T	exonic		Paternal	stopgain	NM_014239	c.G415T	p.E139X	34.0	-	Cirnigliaro2023 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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