Variant Results

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Results for "CHM"

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
CHM	1-0372-003	chrX: 85233896-85233896	C	T	splicing		De novo	splicing				13.75	-	Yuen2017 G
CHM	10C109030	chrX: 85233896-85233896	C	T	splicing		De novo	splicing				13.75	-	Satterstrom2020 E
CHM	AU0786305	chrX: 85217323-85217323	C	A	intronic		De novo					-	-	Yuen2017 G
CHM	ASD086	chrX: 85212934-85212934	A	G	exonic		Inherited	nonsynonymous SNV	NM_000390	c.T866C	p.M289T	17.0	-	Tran2020 E Wu2019 E
CHM	AU4032306	chrX: 85146380-85146380	G	A	intronic		De novo					-	-	Yuen2017 G
CHM	AU024105	chrX: 85188550-85188557	GAAGTTAA	GAA	intronic		De novo					-	-	Yuen2017 G
CHM	2-1266-003	chrX: 85209850-85209850	T	A	intronic		De novo					-	-	Yuen2017 G
CHM	AU3154302	chrX: 85168330-85168344	AAAAAAAAAAAGAAA	AAAA	intronic		De novo					-	-	Yuen2017 G
CHM	AU0146301	chrX: 85365019-85365019	G	A	intergenic		De novo					-	-	Yuen2017 G
CHM	74-0115	chrX: 85247868-85247868	G	A	intronic		De novo					-	-	Michaelson2012 G

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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