Variant Results

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Results for "DXO"

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
DXO	REACH000364	chr6: 31937639-31937639	C	T	UTR3		De novo					-	-	Trost2022 G Trost2022 G
DXO	1-0459-004	chr6: 31938129-31938129	T	C	exonic		De novo	synonymous SNV	NM_005510	c.A939G	p.E313E	0.867	-	Yuen2015 G Yuen2017 G Zhou2022 GE
DXO	14350.p1	chr6: 31938153-31938153	G	C	exonic		De novo	synonymous SNV	NM_005510	c.C915G	p.T305T	11.65	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E Zhou2022 GE
DXO	11336_p1	chr6: 31938187-31938187	C	T	exonic		De novo	nonsynonymous SNV	NM_005510	c.G881A	p.R294H	20.7	3.295E-5	Fu2022 E
DXO	11336.p1	chr6: 31938187-31938187	C	T	exonic		De novo	nonsynonymous SNV	NM_005510	c.G881A	p.R294H	20.7	3.295E-5	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Sanders2012 E Satterstrom2020 E Trost2022 G Wilfert2021 G Zhou2022 GE
DXO	SSC10643	chr6: 31938153-31938153	G	C	exonic		De novo	synonymous SNV	NM_005510	c.C915G	p.T305T	11.65	-	Fu2022 E Trost2022 G
DXO	SP0024802	chr6: 31938148-31938148	G	A	exonic		De novo	nonsynonymous SNV	NM_005510	c.C920T	p.P307L	14.55	-	Fu2022 E Trost2022 G Trost2022 G Zhou2022 GE

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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