Variant Results

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Results for "Du2018"

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
AFF2	ASD-667	chrX: 148038084-148038084	C	T	exonic		Maternal	nonsynonymous SNV	NM_001170628 NM_001169122 NM_001169124 NM_001169125 NM_001169123 NM_002025	c.C1432T c.C2410T c.C2404T c.C2392T c.C2479T c.C2509T	p.R478C p.R804C p.R802C p.R798C p.R827C p.R837C	18.98	8.016E-5	Du2018 E
IL1RAPL1	ASD-706	chrX: 29973335-29973335	C	T	exonic		De novo	stopgain	NM_014271	c.C1489T	p.R497X	41.0	-	Du2018 E
SHANK3	ASD-685	chr22: 51159933-51159933	G	GG	exonic		De novo	frameshift insertion	NM_033517	c.3630dupG	p.L1210fs	-	-	Du2018 E
ADNP	ASD-821	chr20: 49520532-49520532	A	G	exonic		De novo	nonsynonymous SNV	NM_001282532 NM_181442 NM_015339 NM_001282531	c.T2C c.T2C c.T2C c.T2C	p.M1T p.M1T p.M1T p.M1T	24.3	-	Du2018 E
PTEN	1	chr10: 89717712-89717712	C	T	exonic		De novo	nonsynonymous SNV	NM_000314 NM_001304718 NM_001304717	c.C737T c.C146T c.C1256T	p.P246L p.P49L p.P419L	19.43	-	Du2018 E
POGZ	ASD-817	chr1: 151397435-151397438	ATGT	GG	exonic		De novo	frameshift substitution	NM_145796 NM_207171 NM_001194938 NM_001194937 NM_015100	c.893_896CC c.1019_1022CC c.992_995CC c.1151_1154CC c.1178_1181CC	N/A N/A N/A N/A N/A	-	-	Du2018 E
CHD8	ASD-867	chr14: 21868432-21868432	T	TT	exonic		De novo	frameshift insertion	NM_001170629 NM_020920	c.4605dupA c.3768dupA	p.G1535fs p.G1256fs	-	-	Du2018 E

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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