Variant Results

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Results for "OPRL1"

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
OPRL1	Ohashi2021:ASD-111	chr20: 62729793-62729793	C	T	exonic			stopgain	NM_000913 NM_182647 NM_001200019	c.C754T c.C754T c.C754T	p.R252X p.R252X p.R252X	35.0	9.154E-5	Ohashi2021 ET
OPRL1	11093.p1	chr20: 62729390-62729390	C	T	exonic		Mosaic, De novo	nonsynonymous SNV	NM_000913 NM_182647 NM_001200019	c.C469T c.C469T c.C469T	p.R157C p.R157C p.R157C	19.5	2.489E-5	Dou2017 E Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E O’Roak2012b E Satterstrom2020 E
OPRL1	13951.p1	chr20: 62711423-62711423	G	C	upstream		De novo					-	-	Turner2016 G
OPRL1	2-0286-003	chr20: 62728051-62728051	T	TCAC	intronic		De novo					-	-	Yuen2017 G
OPRL1	SP0118566	chr20: 62729405-62729405	C	T	exonic		De novo	nonsynonymous SNV	NM_000913 NM_182647 NM_001200019	c.C484T c.C484T c.C484T	p.R162C p.R162C p.R162C	16.82	-	Fu2022 E
OPRL1	Lim2017:4913	chr20: 62729851-62729851	T	G	exonic		De novo	nonsynonymous SNV	NM_000913 NM_182647 NM_001200019	c.T812G c.T812G c.T812G	p.V271G p.V271G p.V271G	19.08	8.379E-5	Lim2017 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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