Variant Results

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Results for "EIF2AK2"

Variant Events: 9

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
EIF2AK2	1-0763-003	chr2: 37348390-37348390	T	A	intronic		De novo					-	-	Yuen2017 G
EIF2AK2	1-1144-003	chr2: 37364126-37364126	C	A	exonic		De novo	nonsynonymous SNV	NM_001135652 NM_001135651 NM_002759	c.G722T c.G722T c.G722T	p.R241I p.R241I p.R241I	12.18	-	Trost2022 G Zhou2022 GE
EIF2AK2	14085.p1	chr2: 37364142-37364142	G	A	exonic		De novo	stopgain	NM_001135652 NM_001135651 NM_002759	c.C706T c.C706T c.C706T	p.Q236X p.Q236X p.Q236X	28.6	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Lim2017 E O’Roak2014 T Satterstrom2020 E Trost2022 G Wilfert2021 G Zhou2022 GE
EIF2AK2	1-0481-003	chr2: 37348207-37348219	CCATCCTGGCTAA	C	intronic		De novo					-	-	Yuen2017 G
EIF2AK2	MSSNG00452-003	chr2: 37376961-37376961	T	C	intronic		De novo					-	-	Trost2022 G
EIF2AK2	10-0006-003	chr2: 37348382-37348384	TGC	GGT	intronic		De novo					-	-	Trost2022 G
EIF2AK2	7-0249-004	chr2: 37359133-37359133	G	C	intronic		De novo					-	-	Trost2022 G Yuen2017 G
EIF2AK2	1-0402-003	chr2: 37348333-37348333	G	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
EIF2AK2	14085_p1	chr2: 37364142-37364142	G	A	exonic		De novo	stopgain	NM_001135652 NM_001135651 NM_002759	c.C706T c.C706T c.C706T	p.Q236X p.Q236X p.Q236X	28.6	-	Fu2022 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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