Variant Results

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Results for "ZNF426"

Variant Events: 9

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
ZNF426	iHART1894	chr19: 9639655-9639655	G	A	exonic		Paternal	stopgain	NM_001300883 NM_024106	c.C952T c.C1066T	p.R318X p.R356X	32.0	1.649E-5	Ruzzo2019 G
ZNF426	iHART3005	chr19: 9639403-9639403	G	A	exonic		Paternal	stopgain	NM_001300883 NM_024106	c.C1204T c.C1318T	p.R402X p.R440X	38.0	4.943E-5	Ruzzo2019 G
ZNF426	iHART2977	chr19: 9639292-9639294	CAT	C	exonic		Maternal	frameshift deletion	NM_001300883 NM_024106	c.1313_1314del c.1427_1428del	p.Y438fs p.Y476fs	-	4.119E-5	Ruzzo2019 G
ZNF426	iHART3004	chr19: 9639403-9639403	G	A	exonic		Paternal	stopgain	NM_001300883 NM_024106	c.C1204T c.C1318T	p.R402X p.R440X	38.0	4.943E-5	Ruzzo2019 G
ZNF426	AU3905302	chr19: 9666136-9666136	C	T	intergenic		De novo					-	-	Yuen2017 G
ZNF426	iHART3007	chr19: 9639403-9639403	G	A	exonic		Paternal	stopgain	NM_001300883 NM_024106	c.C1204T c.C1318T	p.R402X p.R440X	38.0	4.943E-5	Ruzzo2019 G
ZNF426	JASD_Fam0053	chr19: 9640036-9640036	A	G	exonic		De novo	nonsynonymous SNV	NM_001300883 NM_024106	c.T571C c.T685C	p.C191R p.C229R	10.77	-	Takata2018 E
ZNF426	2-0272-004	chr19: 9667139-9667139	T	A	intergenic		De novo					-	-	Yuen2017 G
ZNF426	iHART2978	chr19: 9639292-9639294	CAT	C	exonic		Maternal	frameshift deletion	NM_001300883 NM_024106	c.1313_1314del c.1427_1428del	p.Y438fs p.Y476fs	-	4.119E-5	Ruzzo2019 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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