Variant Results

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Results for "ZBTB45"

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
ZBTB45	SSC10729	chr19: 59028431-59028433	CAG	C	exonic		De novo	frameshift deletion	NM_001316978 NM_001316979 NM_001316980 NM_001316981 NM_001316982 NM_032792	c.608_609del c.608_609del c.608_609del c.608_609del c.608_609del c.608_609del	p.P203fs p.P203fs p.P203fs p.P203fs p.P203fs p.P203fs	-	-	Fu2022 E
ZBTB45	11511.p1	chr19: 59028486-59028489	TGGG	T	exonic		De novo	nonframeshift deletion	NM_001316978 NM_001316979 NM_001316980 NM_001316981 NM_001316982 NM_032792	c.552_554del c.552_554del c.552_554del c.552_554del c.552_554del c.552_554del	p.184_185del p.184_185del p.184_185del p.184_185del p.184_185del p.184_185del	-	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
ZBTB45	AU083003	chr19: 59025465-59025465	G	A	exonic		Unknown	nonsynonymous SNV	NM_001316978 NM_001316979 NM_001316980 NM_001316981 NM_001316982 NM_032792	c.C1492T c.C1492T c.C1492T c.C1492T c.C1492T c.C1492T	p.R498C p.R498C p.R498C p.R498C p.R498C p.R498C	19.1	-	Stessman2017 T
ZBTB45	1-0755-003	chr19: 59034053-59034053	G	A	intronic		De novo					-	-	Yuen2017 G
ZBTB45	14231.p1	chr19: 59028431-59028433	CAG	C	exonic		De novo	frameshift deletion	NM_001316978 NM_001316979 NM_001316980 NM_001316981 NM_001316982 NM_032792	c.608_609del c.608_609del c.608_609del c.608_609del c.608_609del c.608_609del	p.P203fs p.P203fs p.P203fs p.P203fs p.P203fs p.P203fs	-	-	Ji2016 E Krumm2015 E Satterstrom2020 E
ZBTB45	SP0059140	chr19: 59028665-59028665	G	A	exonic		De novo	stopgain	NM_001316978 NM_001316979 NM_001316980 NM_001316981 NM_001316982 NM_032792	c.C376T c.C376T c.C376T c.C376T c.C376T c.C376T	p.R126X p.R126X p.R126X p.R126X p.R126X p.R126X	19.54	9.935E-6	Fu2022 E
ZBTB45	SP0057248	chr19: 59028593-59028593	G	A	exonic		De novo	nonsynonymous SNV	NM_001316978 NM_001316979 NM_001316980 NM_001316981 NM_001316982 NM_032792	c.C448T c.C448T c.C448T c.C448T c.C448T c.C448T	p.R150C p.R150C p.R150C p.R150C p.R150C p.R150C	16.65	-	Fu2022 E
ZBTB45	SP0108603	chr19: 59025444-59025444	G	T	exonic		De novo	nonsynonymous SNV	NM_001316978 NM_001316979 NM_001316980 NM_001316981 NM_001316982 NM_032792	c.C1513A c.C1513A c.C1513A c.C1513A c.C1513A c.C1513A	p.L505M p.L505M p.L505M p.L505M p.L505M p.L505M	12.95	-	Fu2022 E
ZBTB45	1-0214-003	chr19: 59029098-59029098	A	G	intronic		De novo					-	-	Yuen2017 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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