Variant Results

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Results for "ZNF813"

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
ZNF813	SP0044146	chr19: 53994335-53994335	G	A	exonic		De novo	synonymous SNV	NM_001004301	c.G849A	p.T283T	-	1.652E-5	Fu2022 E Trost2022 G Zhou2022 GE
ZNF813	5-5083-003	chr19: 53977559-53977559	A	G	intronic		De novo					-	-	Trost2022 G
ZNF813	MT_22.3	chr19: 53972327-53972328	CG	C	intronic		De novo					-	-	Trost2022 G
ZNF813	MSSNG00136-003	chr19: 53970575-53970575	G	T	upstream		De novo					-	-	Trost2022 G
ZNF813	09C99754	chr19: 53994750-53994750	A	C	exonic		De novo	nonsynonymous SNV	NM_001004301	c.A1264C	p.K422Q	0.007	-	DeRubeis2014 E Kosmicki2017 E Neale2012 E Zhou2022 GE
ZNF813	GEA449	chr19: 53994437-53994437	T	G	exonic		De novo	nonsynonymous SNV	NM_001004301	c.T951G	p.H317Q	13.02	-	Fu2022 E
ZNF813	SP0012511	chr19: 53994630-53994630	C	A	exonic		De novo	nonsynonymous SNV	NM_001004301	c.C1144A	p.P382T	10.56	-	Trost2022 G Zhou2022 GE
ZNF813	09C99754	chr19: 53994908-53994910	GAC	G	exonic		De novo	frameshift deletion	NM_001004301	c.1423_1424del	p.T475fs	-	-	Satterstrom2020 E Trost2022 G Zhou2022 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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