Variant Results

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Results for "DDX23"

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
DDX23	Leuven2_81324840	chr12: 49230558-49230558	G	A	exonic		Unknown	nonsynonymous SNV	NM_004818	c.C1030T	p.R344C	21.5	-	Wang2020 T
DDX23	AU011604	chr12: 49246462-49246462	C	T	upstream		De novo					-	-	Trost2022 G Yuen2017 G
DDX23	11223.p1	chr12: 49225047-49225047	G	A	exonic		Unknown, De novo	nonsynonymous SNV	NM_004818	c.C2117T	p.A706V	36.0	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Wang2020 T Zhou2022 GE
DDX23	ACGC_HN0262.p1	chr12: 49233879-49233879	C	G	exonic		Maternal	nonsynonymous SNV	NM_004818	c.G331C	p.G111R	16.98	-	Wang2020 T
DDX23	SP0112781	chr12: 49227319-49227319	A	C	intronic		De novo					-	-	Fu2022 E Trost2022 G
DDX23	ACGC_HEN0319.p1	chr12: 49230000-49230000	C	T	exonic		De novo	nonsynonymous SNV	NM_004818	c.G1286A	p.R429H	31.0	-	Wang2020 T
DDX23	11223_p1	chr12: 49225047-49225047	G	A	exonic		De novo	nonsynonymous SNV	NM_004818	c.C2117T	p.A706V	36.0	-	Fu2022 E

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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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