Variant Results

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Results for "EIF5"

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
EIF5	12357.p1	chr14: 103806179-103806179	T	G	intronic		De novo					-	-	Satterstrom2020 E Trost2022 G
EIF5	SP0088523	chr14: 103806181-103806181	T	G	intronic		De novo					-	-	Fu2022 E
EIF5	SP0043398	chr14: 103805289-103805289	A	G	intronic		De novo					-	-	Fu2022 E Trost2022 G
EIF5	12224.p1	chr14: 103806868-103806871	CGAA	C	exonic		De novo	nonframeshift deletion	NM_183004 NM_001969	c.1177_1179del c.1177_1179del	p.393_393del p.393_393del	-	2.475E-5	Ji2016 E Krumm2015 E
EIF5	1-0414-005	chr14: 103844968-103844968	G	A	intergenic		De novo					-	-	Yuen2017 G
EIF5	AU2500301	chr14: 103803508-103803508	G	C	exonic			nonsynonymous SNV	NM_183004 NM_001969	c.G383C c.G383C	p.R128P p.R128P	29.3	-	Zhou2022 GE
EIF5	MSSNG00392-003	chr14: 103802238-103802238	A	G	exonic			nonsynonymous SNV	NM_183004 NM_001969	c.A41G c.A41G	p.Y14C p.Y14C	24.7	8.236E-6	Zhou2022 GE
EIF5	1-0417-003	chr14: 103839252-103839252	T	A	intergenic		De novo					-	-	Yuen2016 G Yuen2017 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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