Variant Results

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Results for "ACOX2"

Variant Events: 10

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
ACOX2	13702.p1	chr3: 58491004-58491005	CA	C	exonic		De novo	frameshift deletion	NM_003500	c.1992delT	p.P664fs	-	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G Zhou2022 GE
ACOX2	SSC08605	chr3: 58491004-58491005	CA	C	exonic		De novo	frameshift deletion	NM_003500	c.1992delT	p.P664fs	-	-	Fu2022 E Trost2022 G
ACOX2	5-0077-004	chr3: 58539419-58539419	A	G	intergenic		De novo					-	-	Yuen2017 G
ACOX2	AU2569301	chr3: 58511234-58511234	G	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ACOX2	MT_161.3	chr3: 58506839-58506839	G	GT	intronic		De novo					-	-	Trost2022 G
ACOX2	MSSNG00001-004	chr3: 58511842-58511842	A	G	intronic		De novo					-	-	Trost2022 G
ACOX2	PN400157	chr3: 58517419-58517419	C	A	splicing		De novo	splicing				9.54	-	Leblond2019 E
ACOX2	2-0272-004	chr3: 58502221-58502221	G	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ACOX2	7-0129-003	chr3: 58489872-58489872	T	C	downstream		De novo					-	-	Trost2022 G Yuen2017 G
ACOX2	2-1724-003	chr3: 58494852-58494852	A	T	intronic		De novo					-	-	Trost2022 G

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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