Variant Results

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Results for "CPNE6"

Variant Events: 5

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
CPNE6	465-09-112072	chr14: 24540728-24540728	C	CCCCCCCCCCCCCCCA	UTR5		De novo					-	-	Satterstrom2020 E Trost2022 G Zhou2022 GE
CPNE6	SP0027924	chr14: 24543949-24543949	C	T	exonic		De novo	nonsynonymous SNV	NM_006032 NM_001280558	c.C617T c.C782T	p.P206L p.P261L	24.6	-	Fu2022 E Trost2022 G Zhou2022 GE
CPNE6	SP0070924	chr14: 24544784-24544784	T	G	exonic		De novo	nonsynonymous SNV	NM_006032 NM_001280558	c.T848G c.T1013G	p.V283G p.V338G	15.07	-	Fu2022 E
CPNE6	2-0018-003	chr14: 24546516-24546516	G	A	exonic		De novo	nonsynonymous SNV	NM_006032 NM_001280558	c.G1453A c.G1618A	p.D485N p.D540N	33.0	-	Yuen2015 G Zhou2022 GE
CPNE6	14339.p1	chr14: 24544644-24544644	C	T	intronic		De novo					-	-	Werling2018 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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