Variant Results

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Results for "NAXD"

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
NAXD	1-0736-003	chr13: 111289667-111289667	C	T	intronic		De novo					-	-	Yuen2017 G
NAXD	1-0489-003	chr13: 111283525-111283525	C	A	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
NAXD	6238	chr13: 111290774-111290774	C	T	exonic		De novo	stopgain	NM_001242883 NM_001242881 NM_001242882	c.C613T c.C943T c.C889T	p.Q205X p.Q315X p.Q297X	17.9	-	Fu2022 E
NAXD	458-04-101669	chr13: 111286886-111286886	T	G	intronic		De novo					-	-	Fu2022 E Satterstrom2020 E
NAXD	SP0040276	chr13: 111274581-111274581	C	T	exonic		De novo	nonsynonymous SNV	NM_001242881 NM_001242882 NM_018210	c.C119T c.C65T c.C119T	p.S40L p.S22L p.S40L	12.58	6.639E-5	Fu2022 E
NAXD	Lim2017:6238	chr13: 111290774-111290774	C	T	exonic		De novo	stopgain	NM_001242883 NM_001242881 NM_001242882	c.C613T c.C943T c.C889T	p.Q205X p.Q315X p.Q297X	17.9	-	Lim2017 E
NAXD	12161.p1	chr13: 111290774-111290774	C	T	exonic		De novo	stopgain	NM_001242883 NM_001242881 NM_001242882	c.C613T c.C943T c.C889T	p.Q205X p.Q315X p.Q297X	17.9	-	Iossifov2014 E Ji2016 E Kosmicki2017 E O’Roak2012b E Satterstrom2020 E Wilfert2021 G Willsey2013 E
NAXD	SP0006387	chr13: 111267890-111267890	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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