Variant Results

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Results for "ZNF445"

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
ZNF445	PN400575	chr3: 44489485-44489485	G	A	exonic		Unknown	stopgain	NM_181489	c.C1678T	p.R560X	39.0	-	Leblond2019 E
ZNF445	1-0628-003	chr3: 44489575-44489575	G	A	exonic		De novo	nonsynonymous SNV	NM_181489	c.C1588T	p.R530W	11.3	1.651E-5	Trost2022 G Zhou2022 GE
ZNF445	PN400576	chr3: 44489485-44489485	G	A	exonic		Unknown	stopgain	NM_181489	c.C1678T	p.R560X	39.0	-	Leblond2019 E
ZNF445	2-1279-003	chr3: 44499585-44499585	G	C	intronic		De novo					-	-	Trost2022 G Yuen2016 G Yuen2017 G
ZNF445	2-0238-004	chr3: 44521591-44521591	G	T	intergenic		De novo					-	-	Yuen2017 G
ZNF445	08C79336	chr3: 44488106-44488106	C	G	exonic		De novo	synonymous SNV	NM_181489	c.G3057C	p.S1019S	-	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Zhou2022 GE
ZNF445	1-0044-003	chr3: 44506130-44506134	GTTTC	G	intronic		De novo					-	-	Yuen2017 G
ZNF445	SSC05973	chr3: 44488908-44488908	G	A	exonic		De novo	nonsynonymous SNV	NM_181489	c.C2255T	p.P752L	15.78	-	Fu2022 E Lim2017 E Trost2022 G
ZNF445	MT_27.3	chr3: 44516511-44516512	AG	A	intronic		De novo					-	-	Trost2022 G
ZNF445	12891.p1	chr3: 44488908-44488908	G	A	exonic		De novo	nonsynonymous SNV	NM_181489	c.C2255T	p.P752L	15.78	-	Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Zhou2022 GE

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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