Variant Results

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Results for "EEF1D"

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
EEF1D	Chen2017:50	chr8: 144671359-144671359	G	A	exonic		De novo	nonsynonymous SNV	NM_001130053 NM_032378	c.C893T c.C893T	p.A298V p.A298V	0.719	-	Chen2017 E
EEF1D	Chen2017:51	chr8: 144671357-144671357	G	A	exonic		De novo	nonsynonymous SNV	NM_001130053 NM_032378	c.C895T c.C895T	p.P299S p.P299S	7.923	-	Chen2017 E
EEF1D	iHART1700	chr8: 144668980-144668980	C	T	exonic		Paternal	stopgain	NM_001130056 NM_001130057 NM_001195203 NM_001289950 NM_001960 NM_001130055 NM_001130053 NM_032378	c.G36A c.G36A c.G36A c.G36A c.G36A c.G36A c.G1134A c.G1134A	p.W12X p.W12X p.W12X p.W12X p.W12X p.W12X p.W378X p.W378X	41.0	-	Ruzzo2019 G
EEF1D	200675464@1082035034	chr8: 144671357-144671357	G	A	exonic		De novo	nonsynonymous SNV	NM_001130053 NM_032378	c.C895T c.C895T	p.P299S p.P299S	7.923	-	Satterstrom2020 E
EEF1D	TRE_2282	chr8: 144662716-144662716	G	A	exonic		De novo	nonsynonymous SNV	NM_001130056 NM_001130057 NM_001195203 NM_001289950 NM_001960 NM_001130055 NM_001130053 NM_032378	c.C500T c.C572T c.C515T c.C572T c.C572T c.C572T c.C1670T c.C1670T	p.A167V p.A191V p.A172V p.A191V p.A191V p.A191V p.A557V p.A557V	9.731	-	Fu2022 E
EEF1D	200675464_1082035034	chr8: 144671357-144671357	G	A	exonic		De novo	nonsynonymous SNV	NM_001130053 NM_032378	c.C895T c.C895T	p.P299S p.P299S	7.923	-	Fu2022 E
EEF1D	74-0265	chr8: 144662545-144662545	C	T	intronic		De novo					-	-	Michaelson2012 G
EEF1D	7-0012-003	chr8: 144668593-144668593	C	T	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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