Variant Results

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Results for "Helsmoortel2014"

Variant Events: 10

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
ADNP	111294	chr20: 49508751-49508755	CTTTA	C	exonic		De novo	frameshift deletion	NM_001282532 NM_181442 NM_015339 NM_001282531	c.2496_2499del c.2496_2499del c.2496_2499del c.2496_2499del	p.N832fs p.N832fs p.N832fs p.N832fs	-	-	Helsmoortel2014 T
ADNP	11-08612	chr20: 49510040-49510040	G	T	exonic		De novo	stopgain	NM_001282532 NM_181442 NM_015339 NM_001282531	c.C1211A c.C1211A c.C1211A c.C1211A	p.S404X p.S404X p.S404X p.S404X	40.0	-	Helsmoortel2014 T
ADNP	1050237	chr20: 49509085-49509098	CATTTGCTCGTAAG	C	exonic		De novo	frameshift deletion	NM_001282532 NM_181442 NM_015339 NM_001282531	c.2153_2165del c.2153_2165del c.2153_2165del c.2153_2165del	p.T718fs p.T718fs p.T718fs p.T718fs	-	-	Helsmoortel2014 T
ADNP	3061-08D	chr20: 49509094-49509094	G	C	exonic		De novo	stopgain	NM_001282532 NM_181442 NM_015339 NM_001282531	c.C2157G c.C2157G c.C2157G c.C2157G	p.Y719X p.Y719X p.Y719X p.Y719X	38.0	-	Helsmoortel2014 T
ADNP	122793	chr20: 49508756-49508760	TTTAA	T	exonic		De novo	frameshift deletion	NM_001282532 NM_181442 NM_015339 NM_001282531	c.2491_2494del c.2491_2494del c.2491_2494del c.2491_2494del	p.L831fs p.L831fs p.L831fs p.L831fs	-	-	Helsmoortel2014 T
ADNP	07-06960	chr20: 49508442-49508443	CG	C	exonic		De novo	stopgain	NM_001282532 NM_181442 NM_015339 NM_001282531	c.2808delC c.2808delC c.2808delC c.2808delC	p.Y936X p.Y936X p.Y936X p.Y936X	-	-	Helsmoortel2014 T
ADNP	2376	chr20: 49508756-49508760	TTTAA	T	exonic		De novo	frameshift deletion	NM_001282532 NM_181442 NM_015339 NM_001282531	c.2491_2494del c.2491_2494del c.2491_2494del c.2491_2494del	p.L831fs p.L831fs p.L831fs p.L831fs	-	-	Helsmoortel2014 T
ADNP	2533	chr20: 49509321-49509321	G	A	exonic		Unknown	stopgain	NM_001282532 NM_181442 NM_015339 NM_001282531	c.C1930T c.C1930T c.C1930T c.C1930T	p.R644X p.R644X p.R644X p.R644X	42.0	-	Helsmoortel2014 T
ADNP	13545.p1	chr20: 49509094-49509094	G	GT	exonic		De novo	stopgain	NM_001282532 NM_181442 NM_015339 NM_001282531	c.2156dupA c.2156dupA c.2156dupA c.2156dupA	p.Y719_E720delinsX p.Y719_E720delinsX p.Y719_E720delinsX p.Y719_E720delinsX	-	-	Helsmoortel2014 T
ADNP	12130.p1	chr20: 49510027-49510029	CTT	C	exonic		De novo	frameshift deletion	NM_001282532 NM_181442 NM_015339 NM_001282531	c.1222_1223del c.1222_1223del c.1222_1223del c.1222_1223del	p.K408fs p.K408fs p.K408fs p.K408fs	-	-	Helsmoortel2014 T

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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