Variant Results

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Results for "CPA2"

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
CPA2	iHART2023	chr7: 129910626-129910627	GA	G	exonic		Paternal	frameshift deletion	NM_001869	c.383delA	p.E128fs	-	3.299E-5	Ruzzo2019 G
CPA2	iHART2024	chr7: 129910626-129910627	GA	G	exonic		Paternal	frameshift deletion	NM_001869	c.383delA	p.E128fs	-	3.299E-5	Ruzzo2019 G
CPA2	AU0146301	chr7: 129910600-129910600	A	G	exonic		De novo	nonsynonymous SNV	NM_001869	c.A356G	p.N119S	11.27	-	Yuen2017 G
CPA2	Shi2013:2	chr7: 129919426-129919426	C	T	exonic		Inherited	nonsynonymous SNV	NM_001869	c.C911T	p.T304I	23.3	-	Shi2013 G
CPA2	AU003406	chr7: 129908021-129908021	C	T	intronic		De novo					-	-	Yuen2017 G
CPA2	Shi2013:1	chr7: 129919426-129919426	C	T	exonic		Inherited	nonsynonymous SNV	NM_001869	c.C911T	p.T304I	23.3	-	Shi2013 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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