Variant Results

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Results for "PPP4R3A"

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
PPP4R3A	14423.p1	chr14: 91932755-91932755	C	T	intronic		De novo					-	-	Wilfert2021 G
PPP4R3A	14152.p1	chr14: 91948183-91948183	T	G	exonic		Mosaic	nonsynonymous SNV	NM_001284280	c.A652C	p.M218L	15.97	-	Dou2017 E
PPP4R3A	1-0329-004	chr14: 92038090-92038090	A	T	intergenic		De novo					-	-	Yuen2017 G
PPP4R3A	AU0452303	chr14: 91986291-91986291	G	A	intergenic		De novo					-	-	Yuen2017 G
PPP4R3A	DEASD_0303_001	chr14: 91925214-91925214	C	CTT	splicing		De novo	splicing				-	-	Satterstrom2020 E
PPP4R3A	SP0075477	chr14: 91975917-91975917	C	T	exonic		De novo	synonymous SNV	NM_001284280 NM_001284281	c.G75A c.G75A	p.G25G p.G25G	-	-	Fu2022 E
PPP4R3A	1-0568-003	chr14: 92002206-92002206	T	C	intergenic		De novo					-	-	Yuen2017 G
PPP4R3A	2-1725-003	chr14: 92010093-92010093	A	G	intergenic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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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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