Variant Results

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Results for "GPR17"

Variant Events: 5

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
GPR17	MT_186.4	chr2: 128403590-128403590	G	A	UTR5		De novo					-	-	Trost2022 G Trost2022 G
GPR17	PN400256	chr2: 128408675-128408675	C	CA	exonic		Unknown	frameshift insertion	NM_001161417 NM_001161416 NM_005291 NM_001161415	c.367dupA c.367dupA c.451dupA c.451dupA	p.L122fs p.L122fs p.L150fs p.L150fs	-	9.909E-5	Leblond2019 E
GPR17	PN400565	chr2: 128408675-128408675	C	CA	exonic		Unknown	frameshift insertion	NM_001161417 NM_001161416 NM_005291 NM_001161415	c.367dupA c.367dupA c.451dupA c.451dupA	p.L122fs p.L122fs p.L150fs p.L150fs	-	9.909E-5	Leblond2019 E
GPR17	111311	chr2: 128409186-128409186	G	A	exonic			nonsynonymous SNV	NM_001161417 NM_001161416 NM_005291 NM_001161415	c.G877A c.G877A c.G961A c.G961A	p.D293N p.D293N p.D321N p.D321N	27.1	3.318E-5	Woodbury-Smith2022 E
GPR17	SP0100803	chr2: 128408616-128408616	G	A	exonic		De novo	nonsynonymous SNV	NM_001161417 NM_001161416 NM_005291 NM_001161415	c.G307A c.G307A c.G391A c.G391A	p.A103T p.A103T p.A131T p.A131T	11.47	2.0E-4	Fu2022 E Trost2022 G Trost2022 G Zhou2022 GE

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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