Variant Results

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Results for "APMAP"

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
APMAP	PN400394	chr20: 24973318-24973318	C	A	exonic		Unknown	stopgain	NM_020531	c.G7T	p.E3X	38.0	6.118E-5	Leblond2019 E
APMAP	200675441_1082034647	chr20: 24964537-24964537	A	G	splicing		De novo	splicing				20.6	1.656E-5	Fu2022 E
APMAP	200675441@1082034647	chr20: 24964537-24964537	A	G	splicing		De novo	splicing				20.6	1.656E-5	Satterstrom2020 E
APMAP	1-0161-004	chr20: 24948985-24948985	A	G	intronic		De novo					-	-	Yuen2017 G
APMAP	1-0445-003	chr20: 24982224-24982224	T	A	intergenic		De novo					-	-	Yuen2017 G
APMAP	Chen2017:38	chr20: 24964537-24964537	A	G	splicing		De novo	splicing				20.6	1.656E-5	Chen2017 E
APMAP	Cukier2014:7936	chr20: 24952147-24952147	G	A	exonic		Unknown	nonsynonymous SNV	NM_020531	c.C487T	p.L163F	21.2	0.0248	Cukier2014 E
APMAP	1-0736-003	chr20: 24981529-24981529	C	G	intergenic		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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