Variant Results

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Results for "PSEN2"

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
PSEN2	217-14414-5230	chr1: 227081706-227081708	AGG	G	splicing		Maternal	splicing				-	-	Stessman2017 T
PSEN2	A13	chr1: 227100712-227100712	G	C	intergenic		De novo					-	-	Wu2018 G
PSEN2	F9483-1	chr1: 227068321-227068321	T	TC	intronic		De novo					-	-	Satterstrom2020 E
PSEN2	AU2117302	chr1: 227083431-227083431	G	C	UTR3		De novo					-	-	Yuen2017 G
PSEN2	M26861	chr1: 227073370-227073370	G	A	exonic		Maternal	nonsynonymous SNV	NM_000447 NM_012486	c.G488A c.G488A	p.R163H p.R163H	35.0	2.48E-5	Guo2018 T Wang2016 T
PSEN2	SP0102689	chr1: 227078950-227078950	T	G	intronic		De novo					-	-	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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