Variant Results

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Results for "EIF3G"

Variant Events: 10

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
EIF3G	SSC06470	chr19: 10226255-10226255	C	T	exonic		De novo	nonsynonymous SNV	NM_003755	c.G847A	p.A283T	22.1	-	Antaki2022 GE Fu2022 E
EIF3G	2-1180-003	chr19: 10234749-10234749	G	A	intergenic		De novo					-	-	Yuen2017 G
EIF3G	12857.p1	chr19: 10226255-10226255	C	T	exonic		De novo	nonsynonymous SNV	NM_003755	c.G847A	p.A283T	22.1	-	Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G
EIF3G	SP0139639	chr19: 10227491-10227491	C	G	exonic		De novo	nonsynonymous SNV	NM_003755	c.G580C	p.E194Q	13.46	8.775E-6	Fu2022 E
EIF3G	02C09535	chr19: 10227494-10227494	T	C	exonic		De novo	nonsynonymous SNV	NM_003755	c.A577G	p.K193E	9.634	-	Fu2022 E Satterstrom2020 E
EIF3G	SP0002090	chr19: 10226810-10226810	C	T	intronic		De novo					-	-	Fu2022 E
EIF3G	21.s1	chr19: 10229376-10229376	G	A	exonic		De novo	nonsynonymous SNV	NM_003755	c.C268T	p.R90W	23.9	1.65E-5	An2014 E
EIF3G	14585.p1	Complex Event; expand row to view variants					De novo					-	8.278E-6	Iossifov2014 E Iossifov2014 E Kosmicki2017 E Kosmicki2017 E
EIF3G	12198.p1	Complex Event; expand row to view variants					De novo	synonymous SNV, frameshift deletion	NM_003755 NM_003755	c.C142T c.142_151del	p.L48L p.L48fs	-	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krumm2015 E O’Roak2012b E
EIF3G	ASC_CA_176_A	chr19: 10226645-10226645	C	T	exonic		De novo	nonsynonymous SNV	NM_003755	c.G701A	p.R234K	18.36	-	Fu2022 E Satterstrom2020 E

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Paper Information

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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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