Variant Results

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Results for "EIF4A3"

Variant Events: 6

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
EIF4A3	Marques2022:138	chr17: 78109932-78109932	T	C	splicing			splicing				8.876	-	Marques2022 ET
EIF4A3	Marques2022:140	chr17: 78118041-78118041	A	G	exonic			nonsynonymous SNV	NM_014740	c.T172C	p.F58L	34.0	-	Marques2022 ET
EIF4A3	AU4029301	chr17: 78113870-78113870	C	T	exonic		De novo	nonsynonymous SNV	NM_014740	c.G442A	p.E148K	18.64	8.251E-6	Yuen2017 G
EIF4A3	Marques2022:139	chr17: 78112071-78112071	A	G	exonic			nonsynonymous SNV	NM_014740	c.T737C	p.L246S	17.48	-	Marques2022 ET
EIF4A3	12077.p1	chr17: 78113792-78113792	G	C	intronic		De novo, Mosaic					-	-	Dou2017 E Krumm2015 E
EIF4A3	SP0037962	chr17: 78112072-78112072	A	C	exonic		De novo	nonsynonymous SNV	NM_014740	c.T736G	p.L246V	10.22	-	Feliciano2019 E Fu2022 E

Source Variant Information

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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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