Variant Results

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Results for "CPA4"

Variant Events: 6

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
CPA4	2-0309-005	chr7: 129965406-129965406	G	A	intergenic		De novo					-	-	Yuen2017 G
CPA4	08C73990	chr7: 129962532-129962532	T	A	UTR3		De novo					-	-	Satterstrom2020 E
CPA4	12498.p1	chr7: 129938587-129938587	G	T	exonic		De novo	nonsynonymous SNV	NM_001163446 NM_016352	c.G70T c.G70T	p.D24Y p.D24Y	17.8	-	Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Turner2016 G
CPA4	SSC04977	chr7: 129938587-129938587	G	T	exonic		De novo	nonsynonymous SNV	NM_001163446 NM_016352	c.G70T c.G70T	p.D24Y p.D24Y	17.8	-	Fu2022 E
CPA4	NDAR_INVGZ858VY7_wes1	chr7: 129948221-129948221	G	A	exonic			stopgain	NM_001163446 NM_016352	c.G678A c.G777A	p.W226X p.W259X	37.0	0.0023	Doan2019 E
CPA4	SP0073804	chr7: 129951897-129951897	C	T	exonic		De novo	nonsynonymous SNV	NM_001163446 NM_016352	c.C914T c.C1013T	p.A305V p.A338V	26.8	4.126E-5	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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