Variant Results

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Results for "FBXO39"

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
FBXO39	AU079605	chr17: 6686605-6686605	G	C	intronic		De novo					-	-	Yuen2017 G
FBXO39	Codina-Sola2015:ASD_1	chr17: 6690276-6690276	G	A	splicing		Unknown	splicing				9.228	-	Codina-Sola2015 E
FBXO39	iHART2265	chr17: 6683355-6683355	G	A	exonic		Paternal	stopgain	NM_153230	c.G168A	p.W56X	35.0	-	Ruzzo2019 G
FBXO39	2-1456-004	chr17: 6680823-6680823	G	T	intronic		De novo					-	-	Yuen2017 G
FBXO39	iHART2777	chr17: 6684173-6684177	TGATA	T	exonic		Paternal	frameshift deletion	NM_153230	c.987_990del	p.L329fs	-	8.342E-6	Ruzzo2019 G
FBXO39	2-0011-004	chr17: 6679085-6679086	AG	A	downstream;upstream		De novo					-	-	Yuen2017 G
FBXO39	SP0056262	chr17: 6690772-6690772	C	T	UTR3		De novo					-	-	Fu2022 E
FBXO39	1-0300-004	chr17: 6680823-6680823	G	T	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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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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