Variant Results

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Results for "PLXNA3"

Variant Events: 8

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
PLXNA3	Li2017:20727	chrX: 153694155-153694155	A	T	exonic		Unknown	stopgain	NM_017514	c.A2497T	p.K833X	40.0	-	Li2017 T
PLXNA3	A11055-1	chrX: 153698849-153698849	C	T	exonic		Unknown	nonsynonymous SNV	NM_017514	c.C5051T	p.S1684L	23.1	-	Li2017 T
PLXNA3	ASD099	chrX: 153693430-153693430	C	T	exonic		Inherited	nonsynonymous SNV	NM_017514	c.C2113T	p.R705W	20.5	2.865E-5	Tran2020 E Wu2019 E
PLXNA3	Li2017:16070	chrX: 153691782-153691782	G	A	exonic		Unknown	nonsynonymous SNV	NM_017514	c.G1366A	p.V456M	19.42	1.0E-4	Li2017 T
PLXNA3	A11	chrX: 153698849-153698849	C	T	exonic		De novo	nonsynonymous SNV	NM_017514	c.C5051T	p.S1684L	23.1	-	Wu2018 G
PLXNA3	AU018803	chrX: 153690630-153690630	C	T	exonic		Unknown	nonsynonymous SNV	NM_017514	c.C1297T	p.R433C	22.5	3.703E-5	Stessman2017 T
PLXNA3	13250.p1	chrX: 153692845-153692845	G	A	splicing		De novo	splicing				15.65	-	Ji2016 E Krumm2015 E Satterstrom2020 E
PLXNA3	212-21002-1	chrX: 153688845-153688845	C	T	exonic		Unknown	nonsynonymous SNV	NM_017514	c.C322T	p.R108C	22.9	2.494E-5	Stessman2017 T

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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