Variant Results

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Results for "DIS3"

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
DIS3	iHART2978	chr13: 73346978-73346978	C	G	splicing		Paternal	splicing				20.9	-	Ruzzo2019 G
DIS3	iHART1889	chr13: 73352417-73352417	A	AT	exonic		Maternal	frameshift insertion	NM_001128226 NM_014953	c.397dupA c.487dupA	p.M133fs p.M163fs	-	3.0E-4	Ruzzo2019 G
DIS3	iHART2319	chr13: 73351629-73351629	C	A	exonic		Maternal	stopgain	NM_001128226 NM_014953	c.G493T c.G583T	p.E165X p.E195X	45.0	5.931E-5	Ruzzo2019 G
DIS3	74-0355	chr13: 73344238-73344238	G	A	intronic		De novo					-	-	Michaelson2012 G
DIS3	iHART1890	chr13: 73352417-73352417	A	AT	exonic		Maternal	frameshift insertion	NM_001128226 NM_014953	c.397dupA c.487dupA	p.M133fs p.M163fs	-	3.0E-4	Ruzzo2019 G
DIS3	10C117696	chr13: 73346895-73346895	T	C	exonic		De novo	nonsynonymous SNV	NM_001128226 NM_014953	c.A1232G c.A1322G	p.H411R p.H441R	19.29	-	DeRubeis2014 E Kosmicki2017 E Lim2017 E Satterstrom2020 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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