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Results for "NLGN3"

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
NLGN3     5-0125-003chrX:
70412016-70412020
ATTTTATTTTGTTTTintergenicDe novo--Yuen2017 G
NLGN3     2-1352-003chrX:
70386983-70386983
GAexonicInheritednonsynonymous SNVNM_001166660
NM_018977
NM_181303
c.G916A
c.G976A
c.G1036A
p.V306M
p.V326M
p.V346M
11.68-Jiang2013 G
NLGN3     2-1729-003chrX:
70388605-70388618
AAGAGAGAGAGAGAAAGAGAGAGAintronicDe novo--Yuen2017 G
NLGN3     14583.p1chrX:
70375069-70375069
CTexonicDe novononsynonymous SNVNM_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
NLGN3     Ishay2021:23chrX:
70367609-70367609
CTexonicMaternalnonsynonymous SNVNM_001166660
NM_018977
NM_181303
c.C10T
c.C10T
c.C10T
p.R4W
p.R4W
p.R4W
8.7760.001Ishay2021 E
NLGN3     AU-17700chrX:
70387029-70387029
TCexonicInheritednonsynonymous SNVNM_001166660
NM_018977
NM_181303
c.T962C
c.T1022C
c.T1082C
p.V321A
p.V341A
p.V361A
15.544.567E-5Yu2013 E
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
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.
Variant event count
Curation notesView
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