Variant Results

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Results for "FBXO30"

Variant Events: 5

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
FBXO30	Cukier2014:7658	chr6: 146121343-146121343	C	G	exonic		Unknown	nonsynonymous SNV	NM_032145	c.G2137C	p.E713Q	19.65	-	Cukier2014 E
FBXO30	Cukier2014:37994	chr6: 146126163-146126163	G	A	exonic		Unknown	nonsynonymous SNV	NM_032145	c.C1379T	p.T460I	19.6	0.0013	Cukier2014 E
FBXO30	14241.p1	chr6: 146126425-146126425	C	T	exonic		De novo	nonsynonymous SNV	NM_032145	c.G1117A	p.G373R	10.79	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Zhou2022 GE
FBXO30	SP0015672	chr6: 146127278-146127278	C	A	exonic		De novo	synonymous SNV	NM_032145	c.G264T	p.V88V	-	-	Fu2022 E Trost2022 G Zhou2022 GE
FBXO30	SSC11199	chr6: 146126425-146126425	C	T	exonic		De novo	nonsynonymous SNV	NM_032145	c.G1117A	p.G373R	10.79	-	Fu2022 E 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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