Variant Results

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Results for "DNAJB5"

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
DNAJB5	AU1955302	chr9: 35031985-35031990	CAAAAA	CAAAA	intergenic		De novo					-	-	Yuen2017 G
DNAJB5	1-0153-005	chr9: 35021991-35021991	A	G	intergenic		De novo					-	-	Yuen2017 G
DNAJB5	7-0387-003	chr9: 34996090-34996090	G	T	intronic		De novo					-	-	Trost2022 G
DNAJB5	3-0484-000	chr9: 34997040-34997040	T	C	exonic		De novo	synonymous SNV	NM_001135005 NM_012266 NM_001135004	c.T1047C c.T831C c.T1173C	p.T349T p.T277T p.T391T	-	-	Trost2022 G Zhou2022 GE
DNAJB5	7-0130-003	chr9: 35020864-35020864	T	TG	intergenic		De novo					-	-	Yuen2017 G
DNAJB5	SP0191061	chr9: 34996673-34996673	A	G	exonic		De novo	nonsynonymous SNV	NM_001135005 NM_012266 NM_001135004	c.A839G c.A623G c.A965G	p.D280G p.D208G p.D322G	18.45	-	Trost2022 G
DNAJB5	11188_p1	chr9: 34997212-34997212	C	G	exonic		De novo	nonsynonymous SNV	NM_001135005 NM_012266 NM_001135004	c.C1219G c.C1003G c.C1345G	p.P407A p.P335A p.P449A	14.17	-	Fu2022 E
DNAJB5	11188.p1	chr9: 34997212-34997212	C	G	exonic		De novo	nonsynonymous SNV	NM_001135005 NM_012266 NM_001135004	c.C1219G c.C1003G c.C1345G	p.P407A p.P335A p.P449A	14.17	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
DNAJB5	SP0052758	chr9: 34993235-34993236	GA	G	exonic		De novo	frameshift deletion	NM_001135005 NM_012266 NM_001135004	c.222delA c.6delA c.348delA	p.G74fs p.G2fs p.G116fs	-	-	Fu2022 E Trost2022 G Zhou2022 GE

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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