Variant Results

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Results for "OCRL"

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
OCRL	1-0756-004	chrX: 128733015-128733015	G	A	intergenic		De novo					-	-	Yuen2017 G
OCRL	2-0704-003	chrX: 128681523-128681530	AAAAGAAA	AAAA	intronic		De novo					-	-	Yuen2017 G
OCRL	Chen2021:66	chrX: 128710340-128710342	TGT	T	exonic		Maternal	frameshift deletion	NM_000276 NM_001587	c.1927_1928del c.1927_1928del	p.V643fs p.V643fs	-	-	Chen2021 GET
OCRL	AU1019301	chrX: 128709230-128709230	G	A	intronic		Unknown					-	2.405E-5	Chahrour2012 E
OCRL	AU2410302	chrX: 128771276-128771276	C	T	intergenic		De novo					-	-	Yuen2017 G
OCRL	B0627	chrX: 128710340-128710342	TGT	T	exonic		Maternal	frameshift deletion	NM_000276 NM_001587	c.1927_1928del c.1927_1928del	p.V643fs p.V643fs	-	-	Xiong2019 ET
OCRL	2-0143-005	chrX: 128696388-128696388	A	G	exonic		De novo	nonsynonymous SNV	NM_000276 NM_001587	c.A967G c.A967G	p.M323V p.M323V	19.34	-	Yuen2015 G
OCRL	AU3787303	chrX: 128683737-128683737	G	A	intronic		De novo					-	-	Yuen2017 G
OCRL	AU031403	chrX: 128715840-128715847	CTCTGTCT	CTCT	intronic		De novo					-	-	Yuen2017 G
OCRL	1-0972-003	chrX: 128768005-128768005	G	A	intergenic		De novo					-	-	Yuen2017 G

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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