Variant Results

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Results for "SNX5"

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
SNX5	M27821	chr20: 17937682-17937682	C	A	splicing		Maternal	splicing				22.4	-	Guo2018 T Wang2016 T
SNX5	A6	chr20: 17930800-17930800	A	G	exonic		De novo	nonsynonymous SNV	NM_001282454 NM_014426 NM_152227	c.T452C c.T767C c.T767C	p.L151S p.L256S p.L256S	9.515	-	Wu2018 G
SNX5	SSC05156	chr20: 17928186-17928186	G	A	exonic		Mosaic, De novo	nonsynonymous SNV	NM_001282454 NM_014426 NM_152227	c.C707T c.C1022T c.C1022T	p.A236V p.A341V p.A341V	14.59	-	Lim2017 E Trost2022 G
SNX5	AU4060306	chr20: 17934218-17934218	T	C	intronic		De novo					-	-	Trost2022 G Yuen2017 G
SNX5	12961_p1	chr20: 17934865-17934865	C	G	intronic		De novo					-	-	Fu2022 E
SNX5	SP0117786	chr20: 17936138-17936141	GTTA	G	intronic		De novo					-	-	Trost2022 G
SNX5	2-1352-003	chr20: 17923824-17923824	T	C	exonic		De novo	nonsynonymous SNV	NM_001282454 NM_014426 NM_152227	c.A779G c.A1094G c.A1094G	p.K260R p.K365R p.K365R	16.89	-	Jiang2013 G Yuen2016 G Yuen2017 G Zhou2022 GE
SNX5	10C105010	chr20: 17923824-17923824	T	C	exonic		De novo	nonsynonymous SNV	NM_001282454 NM_014426 NM_152227	c.A779G c.A1094G c.A1094G	p.K260R p.K365R p.K365R	16.89	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
SNX5	12563.p1	chr20: 17928186-17928186	G	A	exonic		Mosaic, De novo	nonsynonymous SNV	NM_001282454 NM_014426 NM_152227	c.C707T c.C1022T c.C1022T	p.A236V p.A341V p.A341V	14.59	-	Dou2017 E Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Zhou2022 GE

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Paper Information

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