Variant Results

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Results for "IFI16"

Variant Events: 7

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
IFI16	1-0453-003	chr1: 159021358-159021358	A	T	intronic		De novo					-	-	Yuen2017 G
IFI16	7-0055-003	chr1: 159017345-159017345	T	G	intronic		De novo					-	-	Yuen2017 G
IFI16	1-0604-003	chr1: 158986013-158986014	GT	GTT	intronic		De novo					-	-	Yuen2017 G
IFI16	74-0180	chr1: 158986366-158986366	G	A	exonic		Inherited	nonsynonymous SNV	NM_005531	c.G425A	p.S142N	5.594	8.279E-6	Patowary2019 E
IFI16	5-0041-003	chr1: 159029059-159029074	AACACACACACACACA	AACACACACACACACACA	intergenic		De novo					-	-	Yuen2017 G
IFI16	2-1093-009	chr1: 159021572-159021572	T	C	exonic		De novo	nonsynonymous SNV	NM_001206567 NM_005531	c.T1601C c.T1601C	p.V534A p.V534A	8.497	-	Yuen2017 G
IFI16	iHART3060	chr1: 158988357-158988359	CAG	C	exonic		Paternal	frameshift deletion	NM_001206567 NM_005531	c.721_722del c.889_890del	p.R241fs p.R297fs	-	-	Ruzzo2019 G

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Paper Information

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Pubmed
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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