Variant Results

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Results for "RSPRY1"

Variant Events: 6

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
RSPRY1	AU006804	chr16: 57272332-57272332	A	G	intronic		De novo					-	-	Yuen2017 G
RSPRY1	2-1335-004	chr16: 57276921-57276921	C	G	intergenic		De novo					-	-	Yuen2017 G
RSPRY1	Codina-Sola2015:ASD_32	chr16: 57238678-57238679	CG	C	exonic		Maternal	frameshift deletion	NM_001305163 NM_001305164 NM_001305182 NM_133368	c.109delG c.109delG c.109delG c.109delG	p.A37fs p.A37fs p.A37fs p.A37fs	-	8.237E-6	Codina-Sola2015 E
RSPRY1	2-1303-003	chr16: 57257606-57257606	T	A	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
RSPRY1	AU3680302	chr16: 57254816-57254816	T	A	intronic		De novo					-	-	Yuen2017 G
RSPRY1	AU031203	chr16: 57251377-57251377	A	G	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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