Variant Results

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Results for "NAXE"

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
NAXE	AU4012302	Complex Event; expand row to view variants					De novo					-	-	Trost2022 G Yuen2017 G
NAXE	1-0494-003	chr1: 156560567-156560567	G	A	upstream		De novo					-	-	Yuen2017 G
NAXE	1-0494-003A	chr1: 156560567-156560567	G	A	upstream		De novo					-	-	Yuen2017 G
NAXE	mAGRE2635	chr1: 156563223-156563223	T	G	exonic		Paternal	stopgain	NM_144772	c.T540G	p.Y180X	27.1	8.276E-6	Cirnigliaro2023 G
NAXE	mAGRE4130	chr1: 156562267-156562271	TGTGA	T	splicing		Paternal	splicing				-	1.647E-5	Cirnigliaro2023 G
NAXE	iHART2635	chr1: 156563223-156563223	T	G	exonic		Paternal	stopgain	NM_144772	c.T540G	p.Y180X	27.1	8.276E-6	Ruzzo2019 G
NAXE	2-0309-005	chr1: 156562185-156562185	G	GC	exonic		De novo	frameshift insertion	NM_144772	c.321dupC	p.S107fs	-	1.647E-5	Trost2022 G Yuen2015 G Yuen2017 G Zhou2022 GE
NAXE	Wang2023:143	chr1: 156563324-156563324	T	C	exonic		De novo	nonsynonymous SNV	NM_144772	c.T641C	p.I214T	20.8	8.243E-5	Wang2023 E

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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