Variant Results

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Results for "CCIN"

Variant Events: 5

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
CCIN	Cukier2014:7590	chr9: 36169894-36169894	A	G	exonic		Unknown	nonsynonymous SNV	NM_005893	c.A395G	p.N132S	14.99	0.0198	Cukier2014 E
CCIN	1-0413-003	chr9: 36174505-36174510	GTCTCT	GTCT	intergenic		De novo					-	-	Yuen2017 G
CCIN	1-0046-003	chr9: 36179934-36179934	C	T	intergenic		De novo					-	-	Yuen2016 G Yuen2017 G
CCIN	2-1491-003	chr9: 36171429-36171429	G	T	downstream		De novo					-	-	Trost2022 G
CCIN	DEASD_0370_001	Complex Event; expand row to view variants					De novo	frameshift deletion, nonsynonymous SNV	NM_005893 NM_005893	c.1219delG c.G1220C	p.G407fs p.G407A	10.16	-	DeRubeis2014 E DeRubeis2014 E Fu2022 E Kosmicki2017 E Kosmicki2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE Zhou2022 GE

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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