Variant Results

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Results for "AMPD2"

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
AMPD2	2-0264-004	chr1: 110164730-110164730	C	T	intronic		De novo					-	-	Yuen2017 G
AMPD2	AU3951302	chr1: 110178223-110178223	G	A	intergenic		De novo					-	-	Yuen2017 G
AMPD2	14061.p1	chr1: 110169391-110169391	G	A	exonic		Mosaic, De novo	nonsynonymous SNV	NM_203404 NM_001308170 NM_001257361 NM_004037 NM_139156 NM_001257360	c.G380A c.G512A c.G383A c.G737A c.G494A c.G737A	p.R127Q p.R171Q p.R128Q p.R246Q p.R165Q p.R246Q	15.13	-	Dou2017 E Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E
AMPD2	SSC10271	chr1: 110169391-110169391	G	A	exonic		De novo	nonsynonymous SNV	NM_203404 NM_001308170 NM_001257361 NM_004037 NM_139156 NM_001257360	c.G380A c.G512A c.G383A c.G737A c.G494A c.G737A	p.R127Q p.R171Q p.R128Q p.R246Q p.R165Q p.R246Q	15.13	-	Lim2017 E
AMPD2	SP0042217	chr1: 110167952-110167952	C	T	exonic		Mosaic, De novo	nonsynonymous SNV	NM_004037 NM_139156 NM_001257360	c.C281T c.C38T c.C281T	p.P94L p.P13L p.P94L	21.3	2.538E-5	Feliciano2019 E Feliciano2019 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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