Variant Results

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Results for "SSX3"

Variant Events: 5

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
SSX3	AU2975301	chrX: 48228681-48228698	CTTTTTTTTTTTTTTTTT	CTTTTTTTTTT	intergenic		De novo					-	-	Yuen2017 G
SSX3	AU4159302	chrX: 48240577-48240596	TTTCTTTCTTTCTTTCCTTC	TTTC	intergenic		De novo					-	-	Yuen2017 G
SSX3	MCD-020-4	chrX: 48213442-48213442	C	A	exonic		Maternal	nonsynonymous SNV	NM_021014	c.G272T	p.G91V	7.278	-	Tuncay2023 G
SSX3	AU1860301	chrX: 48223352-48223352	C	A	intergenic		De novo					-	-	Yuen2017 G
SSX3	Al-Mubarak2017:ASD-16	chrX: 48213446-48213446	G	T	exonic		Unknown	nonsynonymous SNV	NM_021014	c.C268A	p.R90S	3.655	-	Al-Mubarak2017 E

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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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