Variant Results

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Results for "ZNF860"

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
ZNF860	3-0307-000	chr3: 32106573-32106573	C	T	intergenic		De novo					-	-	Yuen2017 G
ZNF860	AU2988302	chr3: 32027877-32027877	G	C	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ZNF860	SSC07586	chr3: 32030783-32030783	T	C	exonic		De novo	nonsynonymous SNV	NM_001137674	c.T212C	p.M71T	0.856	-	Lim2017 E Trost2022 G
ZNF860	AU074403	chr3: 32070112-32070112	T	C	intergenic		De novo					-	-	Yuen2017 G
ZNF860	AU2988303	chr3: 32027877-32027877	G	C	intronic		De novo					-	-	Yuen2017 G
ZNF860	12055.p1	chr3: 32030783-32030783	T	C	exonic		De novo	nonsynonymous SNV	NM_001137674	c.T212C	p.M71T	0.856	-	Iossifov2012 E Iossifov2014 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Wilfert2021 G Zhou2022 GE
ZNF860	AU4359301	chr3: 32055772-32055772	G	A	intergenic		De novo					-	-	Yuen2017 G
ZNF860	A17	chr3: 32030579-32030580	GT	G	exonic		De novo	frameshift deletion	NM_001137674	c.9delT	p.R3fs	-	0.0013	Wu2018 G
ZNF860	A7	chr3: 32030579-32030580	GT	G	exonic		De novo	frameshift deletion	NM_001137674	c.9delT	p.R3fs	-	0.0013	Wu2018 G

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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