Variant Results

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Results for "DDX17"

Variant Events: 6

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
DDX17	2-1743-003A	chr22: 38883871-38883872	GA	G	intronic							-	-	Zhou2022 GE
DDX17	12859.p1	chr22: 38884082-38884082	G	A	exonic		Mosaic, De novo	nonsynonymous SNV	NM_001098504 NM_006386	c.C1486T c.C1486T	p.P496S p.P496S	24.0	-	Dou2017 E Ji2016 E Krumm2015 E Krupp2017 E
DDX17	SP0118279	chr22: 38894651-38894651	T	A	intronic		De novo					-	-	Fu2022 E
DDX17	AU1848302	chr22: 38894373-38894373	G	C	intronic		De novo					-	-	Yuen2017 G
DDX17	SJD_50	chr22: 38895486-38895486	G	A	exonic		Paternal	nonsynonymous SNV	NM_001098504 NM_006386	c.C457T c.C457T	p.R153C p.R153C	16.17	8.238E-6	Toma2013 E
DDX17	SSC06092	chr22: 38884082-38884082	G	A	exonic		Mosaic	nonsynonymous SNV	NM_001098504 NM_006386	c.C1486T c.C1486T	p.P496S p.P496S	24.0	-	Lim2017 E

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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