Variant Results

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Results for "ALPPL2"

Variant Events: 8

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
ALPPL2	Cukier2014:7870	chr2: 233272091-233272091	C	T	exonic		Unknown	nonsynonymous SNV	NM_031313	c.C280T	p.P94S	13.22	0.0072	Cukier2014 E
ALPPL2	AU4462302	chr2: 233314739-233314739	G	C	intergenic		De novo					-	-	Yuen2017 G
ALPPL2	AU4462302	chr2: 233314744-233314744	A	G	intergenic		De novo					-	-	Yuen2017 G
ALPPL2	SP0047516	chr2: 233274599-233274599	G	T	UTR3		De novo					-	-	Fu2022 E Trost2022 G
ALPPL2	2-1365-003	chr2: 233286291-233286291	G	A	intergenic		De novo					-	-	Yuen2016 G Yuen2017 G
ALPPL2	AU076508	chr2: 233313181-233313181	G	A	intergenic		De novo					-	-	Yuen2017 G
ALPPL2	NP170	chr2: 233274543-233274543	A	C	exonic		De novo	synonymous SNV	NM_031313	c.A1560C	p.A520A	-	1.74E-5	Lim2017 E
ALPPL2	AU3808304	chr2: 233292827-233292827	G	C	intergenic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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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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