Variant Results

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Results for "REM2"

Variant Events: 6

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
REM2	2-1264-003	chr14: 23361850-23361850	C	T	intergenic		De novo					-	-	Yuen2016 G Yuen2017 G
REM2	NP147	chr14: 23355972-23355972	C	T	exonic		De novo	nonsynonymous SNV	NM_173527	c.C877T	p.P293S	8.154	-	Fu2022 E Lim2017 E Satterstrom2020 E
REM2	iHART1388	chr14: 23355232-23355232	G	C	splicing		Paternal	splicing				24.7	9.152E-5	Ruzzo2019 G
REM2	iHART1385	chr14: 23355232-23355232	G	C	splicing		Paternal	splicing				24.7	9.152E-5	Ruzzo2019 G
REM2	JASD_Fam0190	chr14: 23355292-23355292	C	T	exonic		De novo	synonymous SNV	NM_173527	c.C579T	p.I193I	22.1	8.305E-6	Takata2018 E
REM2	NP147	chr14: 23355292-23355292	C	T	exonic		De novo	synonymous SNV	NM_173527	c.C579T	p.I193I	22.1	8.305E-6	Lim2017 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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