Variant Results

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Results for "VPS11"

Variant Events: 7

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
VPS11	mAGRE4869	chr11: 118944089-118944091	GAC	G	exonic		Maternal	unknown				-	-	Cirnigliaro2023 G
VPS11	mAGRE4867	chr11: 118944089-118944091	GAC	G	exonic		Maternal	unknown				-	-	Cirnigliaro2023 G
VPS11	80001103390	chr11: 118952268-118952268	C	G	exonic		De novo	unknown				-	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
VPS11	G01-GEA-14-HI	chr11: 118938598-118938598	C	G	exonic		De novo	unknown				-	-	Fu2022 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
VPS11	14417.p1	chr11: 118949676-118949676	C	T	exonic		Mosaic	unknown				-	3.0E-4	Dou2017 E
VPS11	111305	chr11: 118951915-118951915	C	T	exonic			unknown				-	-	Woodbury-Smith2022 E
VPS11	SP0027284	chr11: 118949492-118949493	GC	G	intronic		De novo					-	-	Fu2022 E Trost2022 G

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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