Variant Results

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Results for "SDC3"

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
SDC3	SP0047831	chr1: 31381352-31381376	GGGCCCCGGGCCCGGCCGCGGCCCC	G	exonic			nonframeshift deletion	NM_014654	c.58_81del	p.20_27del	-	-	Zhou2022 GE
SDC3	Lim2017:68752	chr1: 31349764-31349764	T	C	exonic		De novo	nonsynonymous SNV	NM_014654	c.A505G	p.T169A	0.047	-	Lim2017 E
SDC3	1-0777-003	chr1: 31379810-31379810	C	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
SDC3	68752	chr1: 31349764-31349764	T	C	exonic		De novo	nonsynonymous SNV	NM_014654	c.A505G	p.T169A	0.047	-	Fu2022 E Trost2022 G
SDC3	NDAR_INVLT014TFN_wes1	chr1: 31346198-31346198	C	T	exonic		De novo	nonsynonymous SNV	NM_014654	c.G1189A	p.A397T	33.0	1.0E-4	DeRubeis2014 E Fu2022 E Kosmicki2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
SDC3	AU3911301	chr1: 31397898-31397898	C	T	intergenic		De novo					-	-	Yuen2017 G
SDC3	13371.p1	chr1: 31349764-31349764	T	C	exonic		De novo	nonsynonymous SNV	NM_014654	c.A505G	p.T169A	0.047	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G Zhou2022 GE

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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