Variant Results

or

or

Results for "RGS2"

Variant Events: 10

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
RGS2	12851.p1	chr1: 192779402-192779402	G	A	intronic		De novo					-	-	Iossifov2012 E Iossifov2014 E Kosmicki2017 E Satterstrom2020 E Zhou2022 GE
RGS2	AU2756306	chr1: 192847377-192847377	C	G	intergenic		De novo					-	-	Yuen2017 G
RGS2	2-1005-003	chr1: 192784500-192784500	G	T	intergenic		De novo					-	-	Yuen2017 G
RGS2	SP0016652	chr1: 192778178-192778178	C	T	UTR5		De novo					-	3.0E-4	Trost2022 G
RGS2	5-0074-003	chr1: 192778206-192778206	A	C	exonic		De novo	nonsynonymous SNV	NM_002923	c.A5C	p.Q2P	11.99	8.243E-6	Trost2022 G Yuen2017 G Zhou2022 GE
RGS2	NDAR_INVYN810UMB_wes1	chr1: 192779294-192779294	A	T	splicing		De novo	splicing				25.2	2.0E-4	DeRubeis2014 E Fu2022 E Kosmicki2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
RGS2	AU4479301	chr1: 192817457-192817457	A	T	intergenic		De novo					-	-	Yuen2017 G
RGS2	2-1454-003	chr1: 192779897-192779897	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
RGS2	AU3903301	chr1: 192878880-192878880	T	A	intergenic		De novo					-	-	Yuen2017 G
RGS2	SSC06297	chr1: 192779402-192779402	G	A	intronic		De novo					-	-	Fu2022 E Trost2022 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