Variant Results

or

or

Results for "PAX3"

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
PAX3	13298.p1	chr2: 223120710-223120710	G	T	intronic		De novo					-	-	Turner2016 G
PAX3	1-0402-004	chr2: 223148865-223148865	A	G	intronic		De novo					-	-	Yuen2017 G
PAX3	SJD_49	chr2: 223096868-223096868	T	A	exonic		Maternal	nonsynonymous SNV	NM_001127366 NM_181457 NM_181458 NM_181459 NM_181460 NM_181461	c.A718T c.A721T c.A721T c.A721T c.A721T c.A721T	p.T240S p.T241S p.T241S p.T241S p.T241S p.T241S	29.6	3.0E-4	Toma2013 E
PAX3	AU056604	chr2: 223086090-223086090	C	T	exonic		De novo	nonsynonymous SNV	NM_001127366 NM_181457 NM_181458 NM_181459 NM_181460 NM_181461	c.G806A c.G809A c.G809A c.G809A c.G809A c.G809A	p.R269H p.R270H p.R270H p.R270H p.R270H p.R270H	28.0	-	Yuen2017 G
PAX3	2-0145-003	chr2: 223078635-223078635	G	A	intronic		De novo					-	-	Yuen2017 G
PAX3	1-0048-003	chr2: 223121420-223121420	A	T	intronic		De novo					-	-	Yuen2017 G
PAX3	3-0428-000	chr2: 223100702-223100702	G	A	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
PAX3	2-1731-003	chr2: 223150713-223150713	G	A	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
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.
Variant event count
Curation notes	View
	More