Variant Results

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Results for "CGN"

Variant Events: 7

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
CGN	8670	chr1: 151491626-151491626	C	T	exonic		De novo	nonsynonymous SNV	NM_020770	c.C631T	p.R211W	23.1	3.334E-5	Fu2022 E
CGN	SMHC01208s000	chr1: 151503215-151503215	A	G	exonic		De novo	nonsynonymous SNV	NM_020770	c.A2564G	p.N855S	19.02	-	Yuan2023 E
CGN	SP0070784	chr1: 151491834-151491834	C	T	exonic		De novo	nonsynonymous SNV	NM_020770	c.C839T	p.P280L	11.81	1.08E-5	Fu2022 E
CGN	SP0058012	chr1: 151509731-151509731	T	G	exonic		De novo	nonsynonymous SNV	NM_020770	c.T3521G	p.L1174R	21.2	-	Fu2022 E
CGN	Cukier2014:17678	chr1: 151491836-151491836	C	T	exonic		Unknown	nonsynonymous SNV	NM_020770	c.C841T	p.R281W	19.02	0.002	Cukier2014 E
CGN	NDAR_INVPM619FA1_wes1	chr1: 151492888-151492888	A	G	splicing			splicing				17.33	-	Doan2019 E
CGN	SP0134085	chr1: 151493158-151493158	A	C	exonic		De novo	nonsynonymous SNV	NM_020770	c.A1131C	p.E377D	13.1	-	Fu2022 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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