Variant Results

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Results for "AOC3"

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
AOC3	12921.p1	chr17: 41008294-41008294	T	C	exonic			nonsynonymous SNV	NM_001277731	c.T1889C	p.I630T	-	2.0E-4	Zhou2022 GE
AOC3	11645_p1	chr17: 41003628-41003628	C	T	exonic		De novo	nonsynonymous SNV	NM_001277731 NM_003734	c.C268T c.C268T	p.R90W p.R90W	6.896	-	Fu2022 E
AOC3	11645.p1	chr17: 41003628-41003628	C	T	exonic		De novo	nonsynonymous SNV	NM_001277731 NM_003734	c.C268T c.C268T	p.R90W p.R90W	6.896	-	Iossifov2014 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
AOC3	09C90017	chr17: 41004302-41004302	A	G	exonic		De novo	synonymous SNV	NM_001277731 NM_003734	c.A942G c.A942G	p.L314L p.L314L	-	2.487E-5	Neale2012 E
AOC3	11252.p1	chr17: 41013650-41013650	G	T	intergenic		De novo					-	-	Turner2016 G
AOC3	SP0050990	chr17: 41004129-41004129	G	T	exonic		De novo	nonsynonymous SNV	NM_001277731 NM_003734	c.G769T c.G769T	p.A257S p.A257S	0.904	-	Fu2022 E Zhou2022 GE
AOC3	SP0032113	chr17: 41004037-41004037	G	A	exonic		De novo	stopgain	NM_001277731 NM_003734	c.G677A c.G677A	p.W226X p.W226X	37.0	1.0E-4	Fu2022 E Trost2022 G

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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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