Variant Results

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Results for "ACOX3"

Variant Events: 8

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
ACOX3	AU072004	chr4: 8415971-8415971	C	T	intronic		De novo					-	0.0024	Yuen2017 G
ACOX3	200675544_1082034258	chr4: 8401309-8401309	C	T	exonic		De novo	nonsynonymous SNV	NM_001101667 NM_003501	c.G847A c.G847A	p.E283K p.E283K	10.98	3.3E-5	Fu2022 E
ACOX3	iHART3017	chr4: 8398837-8398837	G	A	exonic		Maternal	stopgain	NM_001101667 NM_003501	c.C883T c.C883T	p.Q295X p.Q295X	26.9	4.0E-4	Ruzzo2019 G
ACOX3	iHART1520	chr4: 8394059-8394059	C	T	splicing		Maternal	splicing				13.27	-	Ruzzo2019 G
ACOX3	A1434B	chr4: 8418132-8418132	C	T	exonic		De novo	synonymous SNV	NM_001101667 NM_003501	c.G117A c.G117A	p.T39T p.T39T	-	1.649E-5	Fu2022 E
ACOX3	CC1041_203	chr4: 8368697-8368697	C	T	exonic		De novo	synonymous SNV	NM_003501	c.G2094A	p.S698S	-	1.647E-5	Fu2022 E
ACOX3	2-1502-003	chr4: 8393091-8393091	G	T	intronic		De novo					-	-	Yuen2017 G
ACOX3	Chen2017:77	chr4: 8401309-8401309	C	T	exonic		De novo	nonsynonymous SNV	NM_001101667 NM_003501	c.G847A c.G847A	p.E283K p.E283K	10.98	3.3E-5	Chen2017 E

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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