Variant Results

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Results for "ASB17"

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
ASB17	AU3636301	chr1: 76385053-76385053	A	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ASB17	Chen2017:81	chr1: 76387833-76387833	C	T	exonic		De novo	nonsynonymous SNV	NM_080868	c.G613A	p.E205K	15.99	-	Chen2017 E
ASB17	mAGRE5063	chr1: 76397779-76397780	TA	T	exonic		Maternal	frameshift deletion	NM_080868	c.197delT	p.L66fs	-	6.591E-5	Cirnigliaro2023 G
ASB17	AU219A	chr1: 76397917-76397917	G	T	exonic		De novo	stopgain	NM_080868	c.C60A	p.C20X	36.0	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
ASB17	AU3053301	chr1: 76401098-76401098	T	C	intergenic		De novo					-	-	Yuen2017 G
ASB17	200675558@1082035039	chr1: 76387833-76387833	C	T	exonic		De novo	nonsynonymous SNV	NM_080868	c.G613A	p.E205K	15.99	-	Satterstrom2020 E Trost2022 G Zhou2022 GE
ASB17	AU2248301	chr1: 76413522-76413522	G	A	intergenic		De novo					-	-	Yuen2017 G
ASB17	SP0125708	chr1: 76384668-76384668	C	T	exonic		De novo	nonsynonymous SNV	NM_080868	c.G857A	p.R286H	19.13	9.892E-5	Fu2022 E Zhou2022 GE
ASB17	200675558_1082035039	chr1: 76387833-76387833	C	T	exonic		De novo	nonsynonymous SNV	NM_080868	c.G613A	p.E205K	15.99	-	Fu2022 E

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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