Variant Results

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Results for "VPS9D1"

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
VPS9D1	SP0078104	chr16: 89786908-89786908	C	G	intronic		De novo					-	-	Fu2022 E Trost2022 G Trost2022 G
VPS9D1	A30	chr16: 89778295-89778295	C	G	exonic		De novo	nonsynonymous SNV	NM_004913	c.G742C	p.D248H	18.42	-	Jiao2019 E
VPS9D1	3023_15au	chr16: 89777452-89777452	C	T	intronic		De novo					-	-	Satterstrom2020 E Trost2022 G
VPS9D1	mAGRE5023	chr16: 89782973-89782973	G	A	exonic		Maternal	stopgain	NM_004913	c.C328T	p.R110X	19.69	8.285E-6	Cirnigliaro2023 G
VPS9D1	mAGRE5022	chr16: 89782973-89782973	G	A	exonic		Maternal	stopgain	NM_004913	c.C328T	p.R110X	19.69	8.285E-6	Cirnigliaro2023 G
VPS9D1	mAGRE4204	chr16: 89777161-89777161	G	T	exonic		Maternal	stopgain	NM_004913	c.C1091A	p.S364X	19.7	-	Cirnigliaro2023 G
VPS9D1	mAGRE4730	chr16: 89774284-89774284	T	TC	exonic		Maternal	frameshift insertion	NM_004913	c.1880dupG	p.G627fs	-	1.684E-5	Cirnigliaro2023 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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