Variant Results

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Results for "NLRP3"

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
NLRP3	AU4173301	chr1: 247583800-247583800	G	A	intronic		De novo					-	-	Yuen2017 G
NLRP3	Lim2017:35953	chr1: 247582253-247582253	G	A	exonic		De novo	nonsynonymous SNV	NM_001127462 NM_001243133 NM_004895 NM_183395 NM_001127461 NM_001079821	c.G157A c.G151A c.G157A c.G157A c.G157A c.G157A	p.D53N p.D51N p.D53N p.D53N p.D53N p.D53N	22.2	8.266E-6	Lim2017 E
NLRP3	1-0447-003	chr1: 247606532-247606551	CTTATTTATTTATTTATTTA	CTTATTTATTTATTTA	intronic		De novo					-	-	Yuen2017 G
NLRP3	13277.p1	chr1: 247582253-247582253	G	A	exonic		De novo	nonsynonymous SNV	NM_001127462 NM_001243133 NM_004895 NM_183395 NM_001127461 NM_001079821	c.G157A c.G151A c.G157A c.G157A c.G157A c.G157A	p.D53N p.D51N p.D53N p.D53N p.D53N p.D53N	22.2	8.266E-6	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G
NLRP3	AU2863302	chr1: 247607574-247607574	C	T	intronic		De novo					-	-	Yuen2017 G
NLRP3	14143.p1	chr1: 247611853-247611853	G	C	UTR3		De novo					-	-	Satterstrom2020 E

Source Variant Information

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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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