Variant Results

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Results for "FAM86B2"

Variant Events: 6

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
FAM86B2	SSC12506	chr8: 12287865-12287865	A	G	exonic		Mosaic	synonymous SNV	NM_001137610	c.T336C	p.Y112Y	-	-	Lim2017 E
FAM86B2	14681.p1	chr8: 12287865-12287865	A	G	exonic		De novo	synonymous SNV	NM_001137610	c.T336C	p.Y112Y	-	-	Krumm2015 E
FAM86B2	147-06-105672	chr8: 12283434-12283434	C	T	exonic		De novo	synonymous SNV	NM_001137610	c.G957A	p.E319E	-	-	Fu2022 E
FAM86B2	AU4060306	chr8: 12293607-12293607	G	T	intronic		De novo					-	-	Yuen2017 G
FAM86B2	AU4006302	chr8: 12293931-12293931	C	T	upstream		De novo					-	-	Yuen2017 G
FAM86B2	27.s1	chr8: 12287885-12287885	T	G	exonic		De novo	nonsynonymous SNV	NM_001137610	c.A316C	p.T106P	3.239	0.0021	An2014 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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