Variant Results

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Results for "OR2T10"

Variant Events: 7

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
OR2T10	11616.p1	chr1: 248756275-248756275	G	T	exonic		De novo	stopgain	NM_001004693	c.C795A	p.Y265X	10.2	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E
OR2T10	2-1451-004	chr1: 248783309-248783309	C	T	intergenic		De novo					-	-	Yuen2017 G
OR2T10	Codina-Sola2015:ASD_23	chr1: 248756159-248756160	AT	A	exonic		Paternal	frameshift deletion	NM_001004693	c.910delA	p.M304fs	-	-	Codina-Sola2015 E
OR2T10	Lim2017:68632	chr1: 248756275-248756275	G	T	exonic		De novo	stopgain	NM_001004693	c.C795A	p.Y265X	10.2	-	Lim2017 E
OR2T10	13080.p1	chr1: 248762360-248762360	G	A	intergenic		Unknown					-	-	Werling2018 G
OR2T10	68632	chr1: 248756275-248756275	G	T	exonic		De novo	stopgain	NM_001004693	c.C795A	p.Y265X	10.2	-	Fu2022 E Trost2022 G
OR2T10	mAGRE5425	chr1: 248756299-248756299	G	T	exonic		Paternal	stopgain	NM_001004693	c.C771A	p.Y257X	6.558	8.534E-6	Cirnigliaro2023 G

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Paper Information

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