Variant Results

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Results for "DUS2"

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
DUS2	2-0127-004	chr16: 68115079-68115079	C	T	intergenic		De novo					-	-	Yuen2017 G
DUS2	JASD_Fam0231	chr16: 68100248-68100248	G	A	exonic		De novo	nonsynonymous SNV	NM_001271763 NM_001271762 NM_017803	c.G341A c.G446A c.G446A	p.R114H p.R149H p.R149H	11.02	8.236E-6	Takata2018 E
DUS2	iHART2691	chr16: 68107994-68107994	C	T	exonic		Maternal	stopgain	NM_001271763 NM_001271762 NM_017803	c.C763T c.C868T c.C868T	p.R255X p.R290X p.R290X	33.0	3.295E-5	Ruzzo2019 G
DUS2	iHART2690	chr16: 68107994-68107994	C	T	exonic		Maternal	stopgain	NM_001271763 NM_001271762 NM_017803	c.C763T c.C868T c.C868T	p.R255X p.R290X p.R290X	33.0	3.295E-5	Ruzzo2019 G
DUS2	DEASD_0323_001	chr16: 68105005-68105005	C	CTGTCTTCCG	exonic		De novo	nonframeshift insertion	NM_001271763 NM_001271762 NM_017803	c.699_700insTGTCTTCCG c.804_805insTGTCTTCCG c.804_805insTGTCTTCCG	p.I233delinsICLP p.I268delinsICLP p.I268delinsICLP	-	-	Satterstrom2020 E
DUS2	1-0485-003	chr16: 68108649-68108649	T	C	intronic		De novo					-	-	Yuen2017 G
DUS2	7-0251-003	chr16: 68112701-68112701	C	T	exonic		De novo	nonsynonymous SNV	NM_001271763 NM_001271762 NM_017803	c.C1189T c.C1294T c.C1294T	p.R397W p.R432W p.R432W	19.67	2.542E-5	Yuen2017 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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