Variant Results

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Results for "ARID3B"

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
ARID3B	PN400115	chr15: 74884098-74884098	C	G	exonic		Unknown	nonsynonymous SNV	NM_001307939 NM_006465	c.C1363G c.C1363G	p.R455G p.R455G	31.0	-	Leblond2019 E
ARID3B	AU4215302	chr15: 74848930-74848930	A	C	intronic		De novo					-	-	Yuen2017 G
ARID3B	Li2017:42	Complex Event; expand row to view variants					Unknown	frameshift insertion	NM_001307939 NM_006465 NM_001307939 NM_006465	c.39_40insG c.39_40insG c.38_39insGC c.38_39insGC	p.Q13fs p.Q13fs p.Q13fs p.Q13fs	-	2.907E-5	Li2017 T Li2017 T
ARID3B	PN400215	chr15: 74884098-74884098	C	G	exonic		Unknown	nonsynonymous SNV	NM_001307939 NM_006465	c.C1363G c.C1363G	p.R455G p.R455G	31.0	-	Leblond2019 E
ARID3B	Li2017:19625	chr15: 74836316-74836316	A	AGCAG	exonic		Unknown	frameshift insertion	NM_001307939 NM_006465	c.39_40insGCAG c.39_40insGCAG	p.Q13fs p.Q13fs	-	-	Li2017 T
ARID3B	A25	Complex Event; expand row to view variants					De novo	frameshift insertion	NM_001307939 NM_006465 NM_001307939 NM_006465	c.38_39insGC c.38_39insGC c.39_40insG c.39_40insG	p.Q13fs p.Q13fs p.Q13fs p.Q13fs	-	2.907E-5	Wu2018 G Wu2018 G
ARID3B	AU072905	chr15: 74809032-74809032	C	G	intergenic		De novo					-	-	Yuen2017 G
ARID3B	AU1909304	chr15: 74845386-74845386	C	T	intronic		De novo					-	-	Yuen2017 G
ARID3B	2-0110-003	chr15: 74816419-74816419	T	A	intergenic		De novo					-	-	Yuen2016 G Yuen2017 G

Source Variant Information

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Paper Information

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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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