Variant Results

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Results for "FAM160B1"

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
FAM160B1	12481.p1	chr10: 116595301-116595301	T	A	exonic		De novo	synonymous SNV	NM_001135051 NM_020940	c.T300A c.T300A	p.P100P p.P100P	-	-	Satterstrom2020 E
FAM160B1	SP0077200	chr10: 116622713-116622713	G	A	UTR3		De novo					-	-	Fu2022 E
FAM160B1	JASD_Fam0122	chr10: 116620601-116620601	G	A	exonic		De novo	nonsynonymous SNV	NM_001135051 NM_020940	c.G2041A c.G2041A	p.V681M p.V681M	17.64	-	Takata2018 E
FAM160B1	Chen2017:36	chr10: 116621094-116621094	G	A	splicing		De novo	splicing				13.9	-	Chen2017 E
FAM160B1	AU003405	chr10: 116595770-116595770	G	T	intronic		De novo					-	-	Yuen2017 G
FAM160B1	200675438_1082035043	chr10: 116621094-116621094	G	A	splicing		De novo	splicing				13.9	-	Fu2022 E
FAM160B1	AU4072303	chr10: 116606543-116606543	T	C	intronic		De novo					-	-	Yuen2017 G
FAM160B1	AU0540301	chr10: 116683897-116683897	T	C	intergenic		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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