Variant Results

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Results for "ATXN2"

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
ATXN2	7-0167-003	chr12: 112006702-112006702	C	T	intronic		De novo					-	-	Yuen2017 G
ATXN2	1-0965-003	chr12: 111946940-111946940	T	C	intronic		De novo					-	-	Yuen2017 G
ATXN2	3-0448-000	chr12: 112032493-112032505	TAGAAGAAGAAGA	TAGAAGAAGA	intronic		De novo					-	-	Yuen2017 G
ATXN2	60-4031	chr12: 112036756-112036756	T	G	exonic		Inherited	nonsynonymous SNV	NM_002973	c.A563C	p.Q188P	11.51	0.0775	Patowary2019 E
ATXN2	AU3695303	chr12: 112074213-112074213	G	A	intergenic		De novo					-	-	Yuen2017 G
ATXN2	SP0037862	chr12: 111890511-111890511	A	T	UTR3		De novo					-	-	Fu2022 E
ATXN2	AU027506	chr12: 112016322-112016322	G	A	intronic		De novo					-	-	Yuen2017 G
ATXN2	72-0745	chr12: 112036756-112036756	T	G	exonic		Inherited	nonsynonymous SNV	NM_002973	c.A563C	p.Q188P	11.51	0.0775	Patowary2019 E

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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