Variant Results

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Results for "DPY19L4"

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
DPY19L4	AU038703	chr8: 95816010-95816010	T	G	intergenic		De novo					-	-	Yuen2017 G
DPY19L4	2-1169-004	chr8: 95812483-95812483	A	T	intergenic		De novo					-	-	Yuen2017 G
DPY19L4	3-0504-000	chr8: 95774047-95774047	G	A	exonic		De novo	synonymous SNV	NM_181787	c.G855A	p.V285V	0.093	-	Tammimies2015 E
DPY19L4	SMHC01561s000	chr8: 95777432-95777432	T	C	exonic		De novo	nonsynonymous SNV	NM_181787	c.T892C	p.Y298H	16.65	-	Yuan2023 E
DPY19L4	AU2117302	chr8: 95814091-95814091	G	A	intergenic		De novo					-	-	Yuen2017 G
DPY19L4	AU0636303	chr8: 95788963-95788963	C	T	intronic		De novo					-	-	Yuen2017 G
DPY19L4	iHART1672	chr8: 95800138-95800138	C	A	exonic		Unknown	stopgain	NM_181787	c.C1865A	p.S622X	38.0	5.074E-5	Ruzzo2019 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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