Variant Results

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Results for "ACKR2"

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
ACKR2	AU070811	chr3: 42906647-42906647	G	C	exonic		Unknown	nonsynonymous SNV	NM_001296	c.G653C	p.G218A	15.2	0.003	Chahrour2012 E
ACKR2	AU4032306	chr3: 42888500-42888505	CTGTGT	CTGT	intronic		De novo					-	-	Yuen2017 G
ACKR2	9190234	chr3: 42906987-42906987	T	C	exonic		De novo	synonymous SNV	NM_001296	c.T993C	p.L331L	-	-	Fu2022 E
ACKR2	AU070811	chr3: 42906595-42906595	G	A	exonic		Unknown	nonsynonymous SNV	NM_001296	c.G601A	p.G201R	6.767	9.071E-5	Chahrour2012 E
ACKR2	13351.p1	chr3: 42906118-42906118	G	A	exonic		De novo	nonsynonymous SNV	NM_001296	c.G124A	p.V42M	6.047	-	Iossifov2014 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E
ACKR2	AU3891303	chr3: 42878007-42878007	T	G	intronic		De novo					-	-	Yuen2017 G
ACKR2	SSC10795	chr3: 42906118-42906118	G	A	exonic		De novo	nonsynonymous SNV	NM_001296	c.G124A	p.V42M	6.047	-	Fu2022 E

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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