Variant Results

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Results for "CPT2"

Variant Events: 8

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
CPT2	Li2017:23795	chr1: 53676193-53676194	GC	G	exonic		Unknown	frameshift deletion	NM_000098	c.848delC	p.A283fs	-	-	Li2017 T
CPT2	SP0086200	chr1: 53666418-53666418	C	T	exonic		De novo	synonymous SNV	NM_000098	c.C180T	p.T60T	-	-	Fu2022 E
CPT2	A30	chr1: 53664745-53664745	G	T	intronic		De novo					-	-	Wu2018 G
CPT2	A2	chr1: 53676893-53676893	T	C	exonic		De novo	nonsynonymous SNV	NM_000098	c.T1547C	p.F516S	22.4	-	Wu2018 G
CPT2	JASD_Fam0222	chr1: 53676213-53676213	A	G	exonic		De novo	synonymous SNV	NM_000098	c.A867G	p.A289A	-	-	Takata2018 E
CPT2	Li2017:18347	chr1: 53675845-53675845	C	T	exonic		Unknown	nonsynonymous SNV	NM_000098	c.C499T	p.R167W	16.14	1.648E-5	Li2017 T
CPT2	Li2017:18342	chr1: 53676958-53676959	TA	T	exonic		Unknown	frameshift deletion	NM_000098	c.1613delA	p.Y538fs	-	-	Li2017 T
CPT2	A007	chr1: 53676893-53676893	T	C	exonic		De novo	nonsynonymous SNV	NM_000098	c.T1547C	p.F516S	22.4	-	Li2017 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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