Variant Results

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Results for "PHF19"

Variant Events: 10

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
PHF19	1-0051-004	chr9: 123619220-123619220	T	G	UTR3		De novo					-	-	Trost2022 G Yuen2017 G
PHF19	AU3051302	chr9: 123619245-123619245	G	A	UTR3		De novo					-	-	Trost2022 G Yuen2017 G
PHF19	SG1307010_32	chr9: 123632740-123632740	G	A	exonic		De novo	synonymous SNV	NM_001009936 NM_001286840 NM_001286843 NM_015651	c.C345T c.C402T c.C345T c.C345T	p.I115I p.I134I p.I115I p.I115I	-	-	Fu2022 E
PHF19	3-0261-000	chr9: 123646063-123646063	A	T	intronic		De novo					-	-	Trost2022 G
PHF19	SP0242221	chr9: 123632102-123632102	T	C	exonic		De novo	synonymous SNV	NM_001009936	c.A486G	p.P162P	-	-	Trost2022 G
PHF19	1-0498-003	chr9: 123644032-123644032	C	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
PHF19	12304.p1	chr9: 123636848-123636848	C	T	exonic		De novo	nonsynonymous SNV	NM_001009936 NM_001286840 NM_001286843 NM_015651	c.G172A c.G229A c.G172A c.G172A	p.G58R p.G77R p.G58R p.G58R	29.7	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E O’Roak2012b E Wilfert2021 G Zhou2022 GE
PHF19	PN400246	chr9: 123632151-123632151	C	T	exonic		Unknown	nonsynonymous SNV	NM_001009936 NM_001286840 NM_015651	c.G437A c.G494A c.G437A	p.R146Q p.R165Q p.R146Q	36.0	-	Leblond2019 E
PHF19	6264	chr9: 123636848-123636848	C	T	exonic		De novo	nonsynonymous SNV	NM_001009936 NM_001286840 NM_001286843 NM_015651	c.G172A c.G229A c.G172A c.G172A	p.G58R p.G77R p.G58R p.G58R	29.7	-	Fu2022 E
PHF19	SSC04633	chr9: 123636848-123636848	C	T	exonic			nonsynonymous SNV	NM_001009936 NM_001286840 NM_001286843 NM_015651	c.G172A c.G229A c.G172A c.G172A	p.G58R p.G77R p.G58R p.G58R	29.7	-	Antaki2022 GE

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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