Variant Results

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Results for "FAAH2"

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
FAAH2	1-0208-003	chrX: 57612519-57612519	G	C	intergenic		De novo					-	-	Yuen2017 G
FAAH2	AU4197301	chrX: 57549338-57549338	T	A	intergenic		De novo					-	-	Yuen2017 G
FAAH2	SJD_49	chrX: 57313299-57313299	T	G	exonic		Maternal	nonsynonymous SNV	NM_174912	c.T41G	p.L14W	8.683	-	Toma2013 E
FAAH2	AU2215302	chrX: 57389816-57389816	T	C	intronic		De novo					-	-	Yuen2017 G
FAAH2	1-0393-003	chrX: 57518419-57518427	TTATATCTA	TTA	intergenic		De novo					-	-	Yuen2017 G
FAAH2	AU056204	chrX: 57558520-57558520	C	A	intergenic		De novo					-	-	Yuen2017 G
FAAH2	12435.p1	chrX: 57458438-57458438	G	A	exonic		De novo	nonsynonymous SNV	NM_174912	c.G1084A	p.A362T	0.243	0.0011	Iossifov2014 E Kosmicki2017 E
FAAH2	1-0385-003	chrX: 57379924-57379926	AAA	AAAGAA	intronic		De novo					-	-	Yuen2017 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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