Variant Results

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Results for "SMAP2"

Variant Events: 10

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
SMAP2	2-1231-003	chr1: 40868173-40868173	G	A	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
SMAP2	1-0300-004	chr1: 40897511-40897513	GAA	G	intergenic		De novo					-	-	Yuen2017 G
SMAP2	1-0232-004	chr1: 40896937-40896937	G	T	intergenic		De novo					-	-	Yuen2017 G
SMAP2	13190.p1	chr1: 40875459-40875459	T	A	exonic		De novo	stopgain	NM_001198978 NM_001198979 NM_001198980 NM_022733	c.T264A c.T339A c.T114A c.T354A	p.Y88X p.Y113X p.Y38X p.Y118X	40.0	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Wilfert2021 G
SMAP2	SSC07381	chr1: 40875459-40875459	T	A	exonic		De novo	stopgain	NM_001198978 NM_001198979 NM_001198980 NM_022733	c.T264A c.T339A c.T114A c.T354A	p.Y88X p.Y113X p.Y38X p.Y118X	40.0	-	Fu2022 E
SMAP2	AU026412	chr1: 40913197-40913197	G	T	intergenic		De novo					-	-	Yuen2017 G
SMAP2	Lim2017:70332	chr1: 40875459-40875459	T	A	exonic		De novo	stopgain	NM_001198978 NM_001198979 NM_001198980 NM_022733	c.T264A c.T339A c.T114A c.T354A	p.Y88X p.Y113X p.Y38X p.Y118X	40.0	-	Lim2017 E
SMAP2	1-0150-004	chr1: 40869802-40869802	A	G	intronic		De novo					-	-	Yuen2017 G
SMAP2	SP0062332	chr1: 40859155-40859155	G	A	exonic		De novo	nonsynonymous SNV	NM_001198979	c.G67A	p.V23I	-	-	Fu2022 E
SMAP2	2-1337-003	chr1: 40895647-40895647	G	A	intergenic		De novo					-	-	Yuen2017 G

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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