Variant Results

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Results for "OR52M1"

Variant Events: 9

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
OR52M1	12692.p1	chr11: 4566664-4566664	A	T	exonic		De novo	stopgain	NM_001004137	c.A244T	p.K82X	28.6	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Wilfert2021 G
OR52M1	CC1119_202	chr11: 4566917-4566917	G	A	exonic		De novo	nonsynonymous SNV	NM_001004137	c.G497A	p.R166H	10.31	5.829E-5	Fu2022 E
OR52M1	PN400260	chr11: 4567327-4567327	C	T	exonic		Unknown	stopgain	NM_001004137	c.C907T	p.R303X	12.42	4.972E-5	Leblond2019 E
OR52M1	CC1119.202	chr11: 4566917-4566917	G	A	exonic		De novo	nonsynonymous SNV	NM_001004137	c.G497A	p.R166H	10.31	5.829E-5	Satterstrom2020 E Trost2022 G
OR52M1	111304	chr11: 4566881-4566881	G	A	exonic			nonsynonymous SNV	NM_001004137	c.G461A	p.G154D	9.922	-	Woodbury-Smith2022 E
OR52M1	SSC06720	chr11: 4566664-4566664	A	T	exonic		De novo	stopgain	NM_001004137	c.A244T	p.K82X	28.6	-	Fu2022 E Lim2017 E Trost2022 G
OR52M1	PN400178	chr11: 4567327-4567327	C	T	exonic		Unknown	stopgain	NM_001004137	c.C907T	p.R303X	12.42	4.972E-5	Leblond2019 E
OR52M1	SP0040571	chr11: 4566993-4566993	A	G	exonic		De novo	synonymous SNV	NM_001004137	c.A573G	p.T191T	-	2.474E-5	Fu2022 E Trost2022 G
OR52M1	60-1057	chr11: 4566422-4566422	T	C	exonic		Inherited	nonsynonymous SNV	NM_001004137	c.T2C	p.M1T	3.283	4.468E-5	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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