Variant Results

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Results for "DCX"

Variant Events: 8

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
DCX	AU1261301	chrX: 110653469-110653469	T	C	exonic		Unknown	nonsynonymous SNV	NM_000555 NM_001195553 NM_178151 NM_178152 NM_178153	c.A401G c.A158G c.A158G c.A158G c.A158G	p.K134R p.K53R p.K53R p.K53R p.K53R	16.25	-	Chahrour2012 E
DCX	07C64767	chrX: 110644366-110644366	C	A	exonic		Inherited	nonsynonymous SNV	NM_000555 NM_001195553 NM_178151 NM_178152 NM_178153	c.G800T c.G557T c.G557T c.G557T c.G557T	p.R267L p.R186L p.R186L p.R186L p.R186L	33.0	-	Stessman2017 T
DCX	AU030104	chrX: 110559321-110559321	A	T	intronic		De novo					-	-	Yuen2017 G
DCX	Hu2022:84	chrX: 110574270-110574270	C	G	splicing		Unknown	splicing				18.07	-	Hu2022 T
DCX	5-0050-004	chrX: 110598458-110598458	G	A	intronic		De novo					-	-	Yuen2017 G
DCX	2-0022-004	chrX: 110710376-110710376	G	T	intergenic		De novo					-	-	Yuen2017 G
DCX	2-1329-003	chrX: 110721103-110721104	AT	A	intergenic		De novo					-	-	Yuen2017 G
DCX	215-13041-0503	chrX: 110653511-110653511	C	T	exonic		Inherited	nonsynonymous SNV	NM_000555 NM_001195553 NM_178151 NM_178152 NM_178153	c.G359A c.G116A c.G116A c.G116A c.G116A	p.R120Q p.R39Q p.R39Q p.R39Q p.R39Q	35.0	-	Stessman2017 T

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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