Variant Results

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Results for "GLRA2"

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
GLRA2	2-1143-003	chrX: 14793287-14793289	TTT	TTTGTT	intergenic		De novo					-	-	Yuen2017 G
GLRA2	AU3702307	chrX: 14790162-14790162	G	A	intergenic		De novo					-	-	Yuen2017 G
GLRA2	AU024004	chrX: 14739883-14739883	A	G	intronic		De novo					-	-	Yuen2017 G
GLRA2	12724.p1	chrX: 14548195-14548195	G	C	exonic		De novo	nonsynonymous SNV	NM_001118886 NM_002063 NM_001118885	c.G16C c.G16C c.G16C	p.V6L p.V6L p.V6L	13.54	-	Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E
GLRA2	11842.p1	chrX: 14599441-14599441	A	G	exonic		De novo	nonsynonymous SNV	NM_001118886 NM_002063 NM_001118885 NM_001171942	c.A407G c.A407G c.A407G c.A140G	p.N136S p.N136S p.N136S p.N47S	25.1	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Wilfert2021 G
GLRA2	AU4467302	chrX: 14647957-14647957	G	A	intronic		De novo					-	-	Yuen2017 G
GLRA2	2-1342-003	chrX: 14588365-14588371	CAAATAA	CAA	intronic		De novo					-	-	Yuen2017 G
GLRA2	AU035204	chrX: 14748509-14748509	A	G	exonic		Unknown	nonsynonymous SNV	NM_001118886 NM_002063 NM_001118885 NM_001171942	c.A1261G c.A1261G c.A1261G c.A994G	p.I421V p.I421V p.I421V p.I332V	12.12	4.0E-4	Chahrour2012 E
GLRA2	AU4188302	chrX: 14630568-14630568	T	C	intronic		De novo					-	-	Yuen2017 G
GLRA2	AU3399302	chrX: 14655066-14655071	TTCTCT	TTCT	intronic		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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