Variant Results

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Results for "ILF2"

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
ILF2	TASC_220-9969-201	chr1: 153637720-153637720	G	A	exonic		Unknown	stopgain	NM_001267809 NM_004515	c.C439T c.C553T	p.R147X p.R185X	37.0	-	Wang2020 T
ILF2	AGRE_09C83102	chr1: 153637720-153637720	G	A	exonic		Unknown	stopgain	NM_001267809 NM_004515	c.C439T c.C553T	p.R147X p.R185X	37.0	-	Wang2020 T
ILF2	10C112515	chr1: 153637720-153637720	G	A	exonic		De novo	stopgain	NM_001267809 NM_004515	c.C439T c.C553T	p.R147X p.R185X	37.0	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
ILF2	AGRE_05C41360	chr1: 153637720-153637720	G	A	exonic		Unknown	stopgain	NM_001267809 NM_004515	c.C439T c.C553T	p.R147X p.R185X	37.0	-	Wang2020 T
ILF2	14621.p1	chr1: 153637720-153637720	G	A	exonic		De novo	stopgain	NM_001267809 NM_004515	c.C439T c.C553T	p.R147X p.R185X	37.0	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Wang2020 T Wilfert2021 G Zhou2022 GE
ILF2	SSC12446	chr1: 153637720-153637720	G	A	exonic			stopgain	NM_001267809 NM_004515	c.C439T c.C553T	p.R147X p.R185X	37.0	-	Antaki2022 GE
ILF2	1-0274-003	chr1: 153644320-153644323	AACC	A	upstream		De novo					-	-	Trost2022 G
ILF2	Lim2017:70518	chr1: 153637720-153637720	G	A	exonic		De novo	stopgain	NM_001267809 NM_004515	c.C439T c.C553T	p.R147X p.R185X	37.0	-	Lim2017 E
ILF2	SP0132245	chr1: 153637697-153637697	A	G	exonic			synonymous SNV	NM_001267809 NM_004515	c.T462C c.T576C	p.H154H p.H192H	-	-	Zhou2022 GE

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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