Variant Results

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Results for "FYCO1"

Variant Events: 10

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
FYCO1	Cukier2014:17351	chr3: 46003735-46003735	C	T	exonic		Unknown	nonsynonymous SNV	NM_024513	c.G3419A	p.R1140Q	36.0	0.0104	Cukier2014 E
FYCO1	1-0458-005	chr3: 46011251-46011251	C	T	exonic		De novo	synonymous SNV	NM_024513	c.G546A	p.T182T	-	1.0E-4	Yuen2015 G Yuen2017 G
FYCO1	Cukier2014:17351	chr3: 46008983-46008983	G	A	exonic		Unknown	nonsynonymous SNV	NM_024513	c.C1843T	p.R615W	16.16	0.0105	Cukier2014 E
FYCO1	1-0972-003	chr3: 46039042-46039042	G	A	intergenic		De novo					-	-	Yuen2017 G
FYCO1	AU3057302	chr3: 45958469-45958469	C	T	downstream		De novo					-	-	Yuen2017 G
FYCO1	1-0991-003	chr3: 46032259-46032259	T	C	intronic		De novo					-	-	Yuen2017 G
FYCO1	13283.p1	chr3: 45999926-45999926	G	C	exonic		De novo	nonsynonymous SNV	NM_024513	c.C3773G	p.P1258R	11.45	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G
FYCO1	1-0009-004	chr3: 46050768-46050768	G	A	intergenic		De novo					-	-	Yuen2017 G
FYCO1	11644.p1	chr3: 46005818-46005818	T	C	intronic		De novo					-	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
FYCO1	2-0704-003	chr3: 46029463-46029463	C	T	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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