Variant Results

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Results for "APH1A"

Variant Events: 4

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
APH1A	09C91621	chr1: 150238957-150238957	G	A	exonic		De novo	stopgain	NM_001243771 NM_001243772 NM_001077628 NM_016022	c.C538T c.C499T c.C709T c.C709T	p.R180X p.R167X p.R237X p.R237X	38.0	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Neale2012 E Satterstrom2020 E Willsey2013 E
APH1A	NDAR_INVVD872ZC6_wes1	chr1: 150240177-150240177	C	A	exonic		De novo	nonsynonymous SNV	NM_001243771 NM_001077628 NM_016022	c.G126T c.G297T c.G297T	p.E42D p.E99D p.E99D	13.45	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Satterstrom2020 E
APH1A	M21758	chr1: 150238531-150238531	C	G	exonic		Paternal	stoploss	NM_001243772 NM_001077628	c.G587C c.G797C	p.X196S p.X266S	14.6	-	Wang2016 T
APH1A	SP0023287	chr1: 150241336-150241336	C	G	UTR5		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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