Variant Results

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Results for "DLL1"

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
DLL1	MCD-008-3	chr6: 170597575-170597575	T	C	exonic		De novo	nonsynonymous SNV	NM_005618	c.A422G	p.E141G	17.56	-	Tuncay2023 G
DLL1	SP0050664	chr6: 170592486-170592486	G	A	exonic		De novo	synonymous SNV	NM_005618	c.C1881T	p.A627A	-	4.948E-5	Fu2022 E Trost2022 G Zhou2022 GE
DLL1	SP0043505	chr6: 170592410-170592410	C	T	exonic		De novo	nonsynonymous SNV	NM_005618	c.G1957A	p.A653T	0.06	9.085E-5	Fu2022 E Trost2022 G Zhou2022 GE
DLL1	SP0094075	chr6: 170597378-170597378	G	A	exonic		De novo	nonsynonymous SNV	NM_005618	c.C619T	p.R207C	18.91	8.276E-6	Antaki2022 GE Fu2022 E Trost2022 G Zhou2022 GE
DLL1	SSC06116	chr6: 170593075-170593075	C	CA	exonic		De novo	frameshift insertion	NM_005618	c.1291dupT	p.C431fs	-	-	Antaki2022 GE Fu2022 E Trost2022 G
DLL1	12653.p1	Complex Event; expand row to view variants					De novo	frameshift insertion	NM_005618	c.1291dupT	p.C431fs	-	-	Dong2014 E Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E O’Roak2014 T Satterstrom2020 E Wilfert2021 G Willsey2013 E Zhou2022 GE
DLL1	AU2463301	chr6: 170595040-170595040	C	T	intronic		De novo					-	-	Trost2022 G
DLL1	MSSNG00037-003	chr6: 170598554-170598554	C	G	intronic		De novo					-	-	Trost2022 G
DLL1	SP0236435	chr6: 170592410-170592410	C	T	exonic		De novo	nonsynonymous SNV	NM_005618	c.G1957A	p.A653T	0.06	9.085E-5	Trost2022 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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