Variant Results

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Results for "BEST3"

Variant Events: 8

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
BEST3	3-0431-000	chr12: 70073301-70073301	A	G	intronic		De novo					-	-	Yuen2017 G
BEST3	SP0063454	chr12: 70088210-70088210	C	T	exonic		De novo	nonsynonymous SNV	NM_001282614 NM_032735	c.G187A c.G187A	p.E63K p.E63K	27.6	-	Fu2022 E
BEST3	2-1591-003	chr12: 70068841-70068841	C	G	intronic		De novo					-	-	Yuen2017 G
BEST3	12076.p1	chr12: 70087547-70087547	G	T	exonic		De novo	nonsynonymous SNV	NM_001282613 NM_001282615 NM_001282616 NM_001282614 NM_032735	c.C70A c.C70A c.C70A c.C388A c.C388A	p.R24S p.R24S p.R24S p.R130S p.R130S	23.2	-	Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E
BEST3	G01-GEA-216-HI	chr12: 70049038-70049038	G	A	exonic		De novo	synonymous SNV	NM_152439 NM_001282613 NM_032735	c.C1017T c.C1338T c.C1656T	p.P339P p.P446P p.P552P	-	-	Fu2022 E Satterstrom2020 E
BEST3	AU3900302	chr12: 70059161-70059161	T	C	intronic		De novo					-	-	Yuen2017 G
BEST3	SSC05875	chr12: 70087547-70087547	G	T	exonic		De novo	nonsynonymous SNV	NM_001282613 NM_001282615 NM_001282616 NM_001282614 NM_032735	c.C70A c.C70A c.C70A c.C388A c.C388A	p.R24S p.R24S p.R24S p.R130S p.R130S	23.2	-	Fu2022 E Lim2017 E
BEST3	iHART1884	chr12: 70048748-70048749	AG	A	exonic		Maternal	frameshift deletion	NM_152439 NM_001282613 NM_032735	c.1306delC c.1627delC c.1945delC	p.L436fs p.L543fs p.L649fs	-	6.633E-5	Ruzzo2019 G

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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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