Variant Results

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Results for "NLGN3"

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
NLGN3	mAGRE5710	chrX: 70389195-70389195	C	T	exonic		Unknown	stopgain	NM_001166660 NM_018977 NM_181303	c.C1675T c.C1735T c.C1795T	p.R559X p.R579X p.R599X	40.0	-	Cirnigliaro2023 G
NLGN3	2-1729-003	chrX: 70388605-70388618	AAGAGAGAGAGAGA	AAGAGAGAGA	intronic		De novo					-	-	Yuen2017 G
NLGN3	Ishay2021:23	chrX: 70367609-70367609	C	T	exonic		Maternal	nonsynonymous SNV	NM_001166660 NM_018977 NM_181303	c.C10T c.C10T c.C10T	p.R4W p.R4W p.R4W	8.776	0.001	Ishay2021 E
NLGN3	AU-17700	chrX: 70387029-70387029	T	C	exonic		Inherited	nonsynonymous SNV	NM_001166660 NM_018977 NM_181303	c.T962C c.T1022C c.T1082C	p.V321A p.V341A p.V361A	15.54	4.567E-5	Yu2013 E
NLGN3	5-0125-003	chrX: 70412016-70412020	ATTTT	ATTTTGTTTT	intergenic		De novo					-	-	Yuen2017 G
NLGN3	2-1352-003	chrX: 70386983-70386983	G	A	exonic		Inherited	nonsynonymous SNV	NM_001166660 NM_018977 NM_181303	c.G916A c.G976A c.G1036A	p.V306M p.V326M p.V346M	11.68	-	Jiang2013 G
NLGN3	14583.p1	chrX: 70375069-70375069	C	T	exonic		De novo	nonsynonymous SNV	NM_001166660 NM_018977 NM_181303	c.C463T c.C523T c.C583T	p.R155W p.R175W p.R195W	18.28	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G Zhou2022 GE
NLGN3	70517	chrX: 70375069-70375069	C	T	exonic		De novo	nonsynonymous SNV	NM_001166660 NM_018977 NM_181303	c.C463T c.C523T c.C583T	p.R155W p.R175W p.R195W	18.28	-	Trost2022 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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