Variant Results

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Results for "ARHGEF6"

Variant Events: 9

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
ARHGEF6	1-0514-003	chrX: 135809542-135809559	TTCTTTCTTTCTTTCTCT	TTCT	intronic		De novo					-	-	Yuen2017 G
ARHGEF6	Codina-Sola2015:ASD_12	chrX: 135827479-135827479	C	T	exonic		Maternal	nonsynonymous SNV	NM_004840	c.G362A	p.R121H	11.2	0.005	Codina-Sola2015 E
ARHGEF6	1-0986-003	chrX: 135809542-135809559	TTCTTTCTTTCTTTCTCT	TTCT	intronic		De novo					-	-	Yuen2017 G
ARHGEF6	AU4069302	chrX: 135794230-135794230	T	C	intronic		De novo					-	-	Yuen2017 G
ARHGEF6	SP0099909	chrX: 135825870-135825870	G	T	exonic			nonsynonymous SNV	NM_001306177 NM_004840	c.C73A c.C535A	p.L25M p.L179M	19.92	-	Zhou2022 GE
ARHGEF6	MCD-016-3	chrX: 135829739-135829739	C	G	exonic		Maternal	nonsynonymous SNV	NM_004840	c.G262C	p.D88H	11.78	4.0E-4	Tuncay2023 G
ARHGEF6	2-1353-003	chrX: 135795456-135795456	C	A	exonic		Inherited	nonsynonymous SNV	NM_001306177 NM_004840	c.G344T c.G806T	p.R115I p.R269I	22.0	-	Jiang2013 G
ARHGEF6	AU066206	chrX: 135809474-135809495	CTTTCTTTCTTTTTCTTTCTTT	CTTTCTTTCTTT	intronic		De novo					-	-	Yuen2017 G
ARHGEF6	AU035204	chrX: 135767897-135767897	A	T	exonic		Unknown	nonsynonymous SNV	NM_001306177 NM_004840	c.T869A c.T1331A	p.I290N p.I444N	13.62	4.56E-5	Chahrour2012 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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