Variant Results

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Results for "PKP3"

Variant Events: 7

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
PKP3	200675492@1082035067	chr11: 396860-396860	C	T	exonic		De novo	nonsynonymous SNV	NM_007183 NM_001303029	c.C359T c.C404T	p.S120F p.S135F	16.23	1.198E-5	Satterstrom2020 E
PKP3	SP0120673	chr11: 400038-400038	A	C	exonic		De novo	nonsynonymous SNV	NM_007183 NM_001303029	c.A1345C c.A1390C	p.T449P p.T464P	15.24	-	Fu2022 E
PKP3	G01-GEA-1-HI	chr11: 403185-403185	G	A	exonic		De novo	synonymous SNV	NM_007183 NM_001303029	c.G1845A c.G1890A	p.L615L p.L630L	-	-	Lim2017 E
PKP3	200675492_1082035067	chr11: 396860-396860	C	T	exonic		De novo	nonsynonymous SNV	NM_007183 NM_001303029	c.C359T c.C404T	p.S120F p.S135F	16.23	1.198E-5	Fu2022 E
PKP3	SP0047769	chr11: 400657-400657	G	C	exonic		De novo	synonymous SNV	NM_007183 NM_001303029	c.G1689C c.G1734C	p.P563P p.P578P	-	-	Fu2022 E
PKP3	Chen2017:67	chr11: 396860-396860	C	T	exonic		De novo	nonsynonymous SNV	NM_007183 NM_001303029	c.C359T c.C404T	p.S120F p.S135F	16.23	1.198E-5	Chen2017 E
PKP3	F5979-1	chr11: 397240-397240	G	C	exonic		De novo	nonsynonymous SNV	NM_007183 NM_001303029	c.G739C c.G784C	p.A247P p.A262P	27.7	-	Montenegro2019 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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