Variant Results

or

or

Results for "GBA2"

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
GBA2	11565.p1	chr9: 35738158-35738158	G	A	intronic		De novo					3.857	1.649E-5	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
GBA2	10C109058	chr9: 35744302-35744302	C	T	exonic		De novo	nonsynonymous SNV	NM_020944	c.G559A	p.A187T	25.2	3.403E-5	Fu2022 E Satterstrom2020 E
GBA2	SSC00259	chr9: 35738158-35738158	G	A	intronic		De novo					3.857	1.649E-5	Fu2022 E Lim2017 E
GBA2	SP0151550	chr9: 35741912-35741913	CG	C	intronic		De novo					-	-	Fu2022 E
GBA2	Shi2013:2	chr9: 35741063-35741063	T	C	splicing		Inherited	splicing				21.8	-	Shi2013 G
GBA2	AU2029301	chr9: 35742983-35742983	C	T	intronic		De novo					-	-	Yuen2017 G
GBA2	Shi2013:1	chr9: 35741063-35741063	T	C	splicing		Inherited	splicing				21.8	-	Shi2013 G
GBA2	5-0087-003	chr9: 35746886-35746886	A	C	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