Variant Results

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Results for "PAQR6"

Variant Events: 3

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
PAQR6	PN400103	chr1: 156215934-156215936	CCA	C	exonic		Unknown	frameshift deletion	NM_001272104 NM_001272108 NM_198406 NM_001272105	c.157_158del c.157_158del c.157_158del c.148_149del	p.W53fs p.W53fs p.W53fs p.W50fs	-	5.031E-5	Leblond2019 E
PAQR6	SP0209892	chr1: 156215326-156215326	C	T	exonic		De novo	nonsynonymous SNV	NM_001272106 NM_001272107 NM_024897 NM_001272104 NM_198406 NM_001272105	c.G112A c.G194A c.G194A c.G512A c.G512A c.G503A	p.V38I p.R65H p.R65H p.R171H p.R171H p.R168H	26.9	1.711E-5	Trost2022 G
PAQR6	mAGRE5676	chr1: 156214923-156214932	GCCTCCTTAC	G	splicing		Paternal	splicing				-	2.0E-4	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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