Variant Results

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Results for "vanBon2015"

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
DYRK1A	13552.p1	chr21: 38877836-38877837	CC	C	exonic		De novo	frameshift deletion	NM_001396 NM_130436 NM_130438 NM_101395	c.1491delC c.1464delC c.1491delC c.1491delC	p.P497fs p.P488fs p.P497fs p.P497fs	-	-	vanBon2015 T
DYRK1A	12099.p1	chr21: 38845117-38845119	ATA	A	exonic		De novo	frameshift deletion	NM_001396 NM_130436 NM_130438 NM_101395	c.143_144del c.143_144del c.143_144del c.143_144del	p.I48fs p.I48fs p.I48fs p.I48fs	-	-	vanBon2015 T
DYRK1A	13890.p1	chr21: 38865466-38865466	G	A	splicing		De novo	splicing				28.2	-	vanBon2015 T
DYRK1A	UMCN 2	chr21: 38877584-38877584	A	G	splicing		De novo	splicing				11.47	-	vanBon2015 T
DYRK1A	Murdoch CRI	chr21: 38850482-38850482	G	A	splicing		Inherited	splicing				20.3	-	vanBon2015 T
DYRK1A	GF2852	chr21: 38852979-38852979	C	T	exonic		De novo	stopgain	NM_001396 NM_130436 NM_130438 NM_101395	c.C367T c.C340T c.C367T c.C367T	p.Q123X p.Q114X p.Q123X p.Q123X	48.0	-	vanBon2015 T

Source Variant Information

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Paper Information

Title
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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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