Variant Results

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Results for "FAS"

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
FAS	SP0062294	chr10: 90762812-90762812	G	A	exonic		De novo	synonymous SNV	NM_000043 NM_152871 NM_152872	c.G57A c.G57A c.G57A	p.S19S p.S19S p.S19S	-	4.119E-5	Fu2022 E Trost2022 G Zhou2022 GE
FAS	1-0389-003	chr10: 90770523-90770523	C	T	exonic		De novo	synonymous SNV	NM_000043 NM_152872	c.C519T c.C519T	p.N173N p.N173N	-	-	Yuen2015 G
FAS	4-0062-003	chr10: 90768904-90768906	CAC	TTT	intronic		De novo					-	-	Trost2022 G
FAS	AU3881302	chr10: 90766463-90766463	A	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
FAS	SP0024630	chr10: 90770316-90770317	AG	A	exonic			frameshift deletion	NM_000043 NM_152871 NM_152872	c.465delG c.465delG c.465delG	p.K155fs p.K155fs p.K155fs	-	-	Zhou2022 GE
FAS	1-0495-003	chr10: 90760845-90760845	A	G	intronic		De novo					-	-	Trost2022 G 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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