Variant Results

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Results for "DPYSL4"

Variant Events: 10

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
DPYSL4	PN400195	chr10: 134012377-134012377	G	A	exonic		Unknown	nonsynonymous SNV	NM_006426	c.G713A	p.R238Q	29.9	-	Leblond2019 E
DPYSL4	iHART1346	chr10: 134012376-134012376	C	T	exonic		Paternal	stopgain	NM_006426	c.C712T	p.R238X	32.0	8.413E-6	Ruzzo2019 G
DPYSL4	iHART1347	chr10: 134012376-134012376	C	T	exonic		Paternal	stopgain	NM_006426	c.C712T	p.R238X	32.0	8.413E-6	Ruzzo2019 G
DPYSL4	PN400488	chr10: 134012377-134012377	G	A	exonic		Unknown	nonsynonymous SNV	NM_006426	c.G713A	p.R238Q	29.9	-	Leblond2019 E
DPYSL4	PN400128	chr10: 134012377-134012377	G	A	exonic		Unknown	nonsynonymous SNV	NM_006426	c.G713A	p.R238Q	29.9	-	Leblond2019 E
DPYSL4	04C29183	chr10: 134006211-134006211	G	A	exonic		De novo	nonsynonymous SNV	NM_006426	c.G178A	p.A60T	31.0	-	Fu2022 E Satterstrom2020 E
DPYSL4	13302.p1	chr10: 134010619-134010642	GGGCTGCCGTGGGGCAGGCACAGG	G	intronic		De novo					-	-	Iossifov2012 E
DPYSL4	PN400287	chr10: 134012377-134012377	G	A	exonic		Unknown	nonsynonymous SNV	NM_006426	c.G713A	p.R238Q	29.9	-	Leblond2019 E
DPYSL4	iHART1348	chr10: 134012376-134012376	C	T	exonic		Paternal	stopgain	NM_006426	c.C712T	p.R238X	32.0	8.413E-6	Ruzzo2019 G
DPYSL4	PN400489	chr10: 134012377-134012377	G	A	exonic		Unknown	nonsynonymous SNV	NM_006426	c.G713A	p.R238Q	29.9	-	Leblond2019 E

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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