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Results for "NRXN2"

Variant Events: 20

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
NRXN2     A13chr11:
64406524-64406524
AGintronicDe novo--Wu2018 G
NRXN2     AU1355301chr11:
64423640-64423644
TCACATCAintronicDe novo--Yuen2017 G
NRXN2     iHART3107chr11:
64397980-64397981
GTGexonicPaternalframeshift deletionNM_138734
NM_138732
NM_015080
c.512delA
c.3530delA
c.3650delA
p.N171fs
p.N1177fs
p.N1217fs
--Ruzzo2019 G
NRXN2     iHART3103chr11:
64397980-64397981
GTGexonicPaternalframeshift deletionNM_138734
NM_138732
NM_015080
c.512delA
c.3530delA
c.3650delA
p.N171fs
p.N1177fs
p.N1217fs
--Ruzzo2019 G
NRXN2     14196_p1chr11:
64419601-64419601
CTexonicDe novosynonymous SNVNM_138732
NM_015080
c.G2322A
c.G2442A
p.A774A
p.A814A
-8.422E-6Fu2022 E
NRXN2     Li2017:17542chr11:
64418005-64418005
CGexonicUnknownnonsynonymous SNVNM_138732
NM_015080
c.G2904C
c.G3024C
p.R968S
p.R1008S
17.76-Li2017 T
NRXN2     A31chr11:
64416268-64416268
CTexonicDe novononsynonymous SNVNM_138732
NM_015080
c.G3101A
c.G3221A
p.R1034H
p.R1074H
24.1-Wu2018 G
NRXN2     2-0068-003chr11:
64419731-64419731
AGintronicDe novo--Yuen2017 G
NRXN2     1-0272-004chr11:
64485036-64485036
GAintronicDe novo--Yuen2017 G
NRXN2     12536.p1chr11:
64457986-64457986
ACintronicDe novo-9.93E-5Satterstrom2020 E
NRXN2     14196.p1chr11:
64419601-64419601
CTexonicDe novosynonymous SNVNM_138732
NM_015080
c.G2322A
c.G2442A
p.A774A
p.A814A
-8.422E-6Krumm2015 E
Lim2017 E
Satterstrom2020 E
NRXN2     A11chr11:
64457918-64457918
GGCexonicDe novoframeshift insertionNM_015080c.808dupGp.A270fs-0.0068Wu2018 G
NRXN2     SP0037614chr11:
64435020-64435020
GAexonicDe novosynonymous SNVNM_138732
NM_015080
c.C1407T
c.C1500T
p.P469P
p.P500P
-6.598E-5Fu2022 E
NRXN2     2-1619-003chr11:
64424409-64424409
CGintronicDe novo--Yuen2017 G
NRXN2     AU4093301chr11:
64387829-64387829
GAexonicDe novosynonymous SNVNM_138734
NM_138732
NM_015080
c.C1051T
c.C3979T
c.C4189T
p.L351L
p.L1327L
p.L1397L
-4.718E-5Yuen2017 G
NRXN2     AU4183301chr11:
64406414-64406414
CTintronicDe novo--Yuen2017 G
NRXN2     Li2017:16100chr11:
64428522-64428522
CTexonicUnknownnonsynonymous SNVNM_138732
NM_015080
c.G1795A
c.G1888A
p.G599S
p.G630S
33.08.481E-5Li2017 T
NRXN2     13946.p1chr11:
64403571-64403571
TGintronicDe novo--Turner2016 G
NRXN2     Cukier2014:17478chr11:
64453180-64453180
CTexonicUnknownnonsynonymous SNVNM_138732
NM_015080
c.G1018A
c.G1090A
p.V340I
p.V364I
15.518.0E-4Cukier2014 E
NRXN2     Bruno2021:XIVchr11:
64453394-64453394
GC exonicDe novo--Bruno2021 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
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