Variant Results

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Results for "ZNF276"

Variant Events: 7

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
ZNF276	A30	chr16: 89789695-89789695	G	T	exonic		De novo	nonsynonymous SNV	NM_001113525 NM_152287	c.G584T c.G359T	p.C195F p.C120F	21.1	-	Jiao2019 E
ZNF276	iHART3101	chr16: 89799945-89799945	C	T	exonic		Maternal	stopgain	NM_001113525 NM_152287	c.C1336T c.C1111T	p.R446X p.R371X	37.0	8.268E-6	Ruzzo2019 G
ZNF276	5L636	chr16: 89804312-89804312	C	T	exonic		De novo	stopgain	NM_001113525 NM_152287	c.C1573T c.C1348T	p.Q525X p.Q450X	39.0	-	Fu2022 E
ZNF276	CC1046.201	chr16: 89795738-89795738	G	A	intronic		De novo					-	-	Satterstrom2020 E
ZNF276	SP0092082	chr16: 89795698-89795698	G	A	exonic		De novo	nonsynonymous SNV	NM_001113525 NM_152287	c.G1141A c.G916A	p.E381K p.E306K	17.84	9.075E-5	Fu2022 E
ZNF276	SP0080176	chr16: 89788219-89788219	C	T	exonic		De novo	synonymous SNV	NM_001113525	c.C171T	p.C57C	-	-	Fu2022 E
ZNF276	Cukier2014:17678	chr16: 89793731-89793731	C	T	exonic		Unknown	nonsynonymous SNV	NM_001113525 NM_152287	c.C1051T c.C826T	p.R351W p.R276W	27.6	0.0052	Cukier2014 E

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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