Variant Results

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Results for "Kenny2014"

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
PATJ	Kenny2014:1	chr1: 62321741-62321742	TC	T	exonic		Unknown	frameshift deletion	NM_176877	c.2153delC	p.S718fs	-	-	Kenny2014 T
TRAF3IP1	Kenny2014:2	chr2: 239257490-239257490	G	T	splicing		Unknown	splicing				11.34	-	Kenny2014 T
DST	Kenny2014:5	chr6: 56482783-56482783	C	CCT	splicing		Unknown	splicing				-	5.0E-4	Kenny2014 T
GRIN2B	Kenny2014:6	chr12: 13724778-13724778	G	A	exonic		Unknown	stopgain	NM_000834	c.C2131T	p.Q711X	42.0	-	Kenny2014 T
APPL1	Kenny2014:3	chr3: 57282220-57282220	G	T	splicing		Unknown	splicing				22.0	8.268E-6	Kenny2014 T
DST	Kenny2014:4	chr6: 56479284-56479284	T	C	splicing		Unknown	splicing				19.24	-	Kenny2014 T
DMD	Kenny2014:9	chrX: 32429867-32429867	G	A	splicing		Unknown	splicing				16.69	5.0E-4	Kenny2014 T
DISC1	Kenny2014:10	chr1: 232144803-232144804	CT	C	exonic		Unknown	frameshift deletion	NM_001164538	c.2316delT	p.P772fs	-	8.493E-6	Kenny2014 T
GRIP1	Kenny2014:7	chr12: 66923668-66923668	G	A	exonic		Unknown	stopgain	NM_001178074 NM_021150	c.C445T c.C445T	p.R149X p.R149X	18.49	-	Kenny2014 T
CNTNAP1	Kenny2014:8	chr17: 40844654-40844654	C	T	exonic		Unknown	stopgain	NM_003632	c.C2668T	p.R890X	42.0	1.648E-5	Kenny2014 T

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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