Variant Results

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Results for "ZBTB41"

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
ZBTB41	160446	chr1: 197145738-197145738	A	C	exonic		De novo	nonsynonymous SNV	NM_194314	c.T1835G	p.F612C	22.4	-	Fu2022 E
ZBTB41	Lim2017:5421	chr1: 197128563-197128563	A	G	exonic		De novo	nonsynonymous SNV	NM_194314	c.T2656C	p.Y886H	21.7	-	Lim2017 E
ZBTB41	11526.p1	chr1: 197128563-197128563	A	G	exonic		De novo	nonsynonymous SNV	NM_194314	c.T2656C	p.Y886H	21.7	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E O’Roak2012b E Satterstrom2020 E Wilfert2021 G Zhou2022 GE
ZBTB41	1-0546-003	chr1: 197148963-197148963	T	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ZBTB41	5421	chr1: 197128563-197128563	A	G	exonic		De novo	nonsynonymous SNV	NM_194314	c.T2656C	p.Y886H	21.7	-	Fu2022 E Trost2022 G
ZBTB41	AU2437302	chr1: 197160872-197160872	A	G	exonic		De novo	synonymous SNV	NM_194314	c.T1278C	p.Y426Y	-	-	Trost2022 G Yuen2017 G Zhou2022 GE
ZBTB41	5-5046-003	chr1: 197150018-197150018	T	C	intronic		De novo					-	-	Trost2022 G
ZBTB41	AU2194301	chr1: 197169231-197169231	C	T	exonic		De novo	nonsynonymous SNV	NM_194314	c.G373A	p.V125I	17.46	-	Trost2022 G Zhou2022 GE
ZBTB41	3-0309-000	chr1: 197150737-197150737	T	C	intronic		De novo					-	-	Trost2022 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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