Variant Results

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Results for "ATP2B3"

Variant Events: 4

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
ATP2B3	Al-Mubarak2017:ASD-18	chrX: 152815599-152815599	C	G	exonic		Unknown	nonsynonymous SNV	NM_001001344 NM_021949	c.C1678G c.C1678G	p.P560A p.P560A	2.747	1.144E-5	Al-Mubarak2017 E
ATP2B3	PN400150	chrX: 152815606-152815606	G	A	exonic		Unknown	nonsynonymous SNV	NM_001001344 NM_021949	c.G1685A c.G1685A	p.R562H p.R562H	26.8	-	Leblond2019 E
ATP2B3	AU1542303	chrX: 152828293-152828293	T	C	intronic		De novo					-	-	Yuen2017 G
ATP2B3	2-1455-003	chrX: 152814198-152814198	G	A	exonic		De novo	synonymous SNV	NM_001001344 NM_021949	c.G1224A c.G1224A	p.P408P p.P408P	-	0.0044	Yuen2017 G

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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