Variant Results

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Results for "SHROOM2"

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
SHROOM2	AU055004	chrX: 9791800-9791800	T	TC	intronic		De novo					-	-	Yuen2017 G
SHROOM2	AU4067303	chrX: 9906416-9906419	ACCC	ACC	intronic		De novo					-	-	Yuen2017 G
SHROOM2	AU022203	chrX: 9905467-9905467	G	A	exonic		Unknown	nonsynonymous SNV	NM_001649	c.G3881A	p.R1294H	6.936	1.0E-4	Chahrour2012 E
SHROOM2	MC-035-3	chrX: 9863880-9863880	C	G	exonic		Maternal	nonsynonymous SNV	NM_001649	c.C1932G	p.S644R	12.99	-	Tuncay2023 G
SHROOM2	AU2711303	chrX: 9852409-9852410	TT	TTCT	intronic		De novo					-	-	Yuen2017 G
SHROOM2	AU2293301	chrX: 9932674-9932680	CACAACA	CACA	intergenic		De novo					-	-	Yuen2017 G
SHROOM2	mAGRE5477	chrX: 9841785-9841785	C	CA	exonic		Unknown	frameshift insertion	NM_001649	c.260dupA	p.Q87fs	-	-	Cirnigliaro2023 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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