Variant Results

or

Results for "NRXN2"

Variant Events: 32

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

A13

chr11:
64406524-64406524

A

G

intronic

De novo

-

Wu2018 G

NRXN2

AU1355301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

NRXN2

14196_p1

chr11:
64419601-64419601

C

T

exonic

De novo

synonymous SNV

NM_138732
NM_015080

c.G2322A
c.G2442A

p.A774A
p.A814A

-

8.422E-6

Fu2022 E

NRXN2

A31

chr11:
64416268-64416268

C

T

exonic

De novo

nonsynonymous SNV

NM_138732
NM_015080

c.G3101A
c.G3221A

p.R1034H
p.R1074H

24.1

-

Wu2018 G

NRXN2

SJD_44.3

chr11:
64456832-64456832

G

A

intronic

De novo

-

Trost2022 G

NRXN2

3-0460-000

chr11:
64472944-64472944

C

T

intronic

De novo

-

Trost2022 G

NRXN2

2-0068-003

chr11:
64419731-64419731

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRXN2

SP0227185

chr11:
64453401-64453401

G

A

exonic

De novo

nonsynonymous SNV

NM_138732
NM_015080

c.C797T
c.C869T

p.A266V
p.A290V

25.3

-

Trost2022 G

NRXN2

SP0187679

chr11:
64456070-64456070

C

A

intronic

De novo

-

Trost2022 G

NRXN2

mAGRE3107

chr11:
64397980-64397981

GT

G

exonic

Paternal

frameshift deletion

NM_138734
NM_138732
NM_015080

c.512delA
c.3530delA
c.3650delA

p.N171fs
p.N1177fs
p.N1217fs

-

Cirnigliaro2023 G

NRXN2

7-0327-003

chr11:
64411302-64411302

A

G

intronic

De novo

-

Trost2022 G

NRXN2

mAGRE3103

chr11:
64397980-64397981

GT

G

exonic

Paternal

frameshift deletion

NM_138734
NM_138732
NM_015080

c.512delA
c.3530delA
c.3650delA

p.N171fs
p.N1177fs
p.N1217fs

-

Cirnigliaro2023 G

NRXN2

1-1180-003

chr11:
64416991-64416991

G

A

intronic

De novo

-

Trost2022 G

NRXN2

14196.p1

chr11:
64419601-64419601

C

T

exonic

De novo

synonymous SNV

NM_138732
NM_015080

c.G2322A
c.G2442A

p.A774A
p.A814A

-

8.422E-6

Krumm2015 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NRXN2

1-0206-005

chr11:
64399904-64399904

G

A

intronic

De novo

-

Trost2022 G

NRXN2

A11

chr11:
64457918-64457918

G

GC

exonic

De novo

frameshift insertion

NM_015080

c.808dupG

p.A270fs

-

0.0068

Wu2018 G

NRXN2

AU4093301

chr11:
64387829-64387829

G

A

exonic

De novo

synonymous SNV

NM_138734
NM_138732
NM_015080

c.C1051T
c.C3979T
c.C4189T

p.L351L
p.L1327L
p.L1397L

-

4.718E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

NRXN2

AU4183301

chr11:
64406414-64406414

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRXN2

AU2817301

chr11:
64481920-64481920

G

A

intronic

De novo

-

Trost2022 G

NRXN2

Bruno2021:XIV

chr11:
64453394-64453394

G

C

exonic

De novo

-

Bruno2021 E

NRXN2

7-0371-003

chr11:
64484422-64484422

C

T

intronic

De novo

-

Trost2022 G

NRXN2

iHART3107

chr11:
64397980-64397981

GT

G

exonic

Paternal

frameshift deletion

NM_138734
NM_138732
NM_015080

c.512delA
c.3530delA
c.3650delA

p.N171fs
p.N1177fs
p.N1217fs

-

Ruzzo2019 G

NRXN2

iHART3103

chr11:
64397980-64397981

GT

G

exonic

Paternal

frameshift deletion

NM_138734
NM_138732
NM_015080

c.512delA
c.3530delA
c.3650delA

p.N171fs
p.N1177fs
p.N1217fs

-

Ruzzo2019 G

NRXN2

Li2017:17542

chr11:
64418005-64418005

C

G

exonic

Unknown

nonsynonymous SNV

NM_138732
NM_015080

c.G2904C
c.G3024C

p.R968S
p.R1008S

17.76

-

Li2017 T

NRXN2

1-0272-004

chr11:
64485036-64485036

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRXN2

12536.p1

chr11:
64457986-64457986

A

C

intronic

De novo

-

9.93E-5

Satterstrom2020 E
Trost2022 G

NRXN2

7-0005-003

chr11:
64402802-64402802

C

T

exonic

De novo

nonsynonymous SNV

NM_138734
NM_138732
NM_015080

c.G388A
c.G3406A
c.G3526A

p.A130T
p.A1136T
p.A1176T

29.7

-

Trost2022 G
Zhou2022 GE

NRXN2

SP0037614

chr11:
64435020-64435020

G

A

exonic

De novo

synonymous SNV

NM_138732
NM_015080

c.C1407T
c.C1500T

p.P469P
p.P500P

-

6.598E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

NRXN2

2-1619-003

chr11:
64424409-64424409

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NRXN2

Li2017:16100

chr11:
64428522-64428522

C

T

exonic

Unknown

nonsynonymous SNV

NM_138732
NM_015080

c.G1795A
c.G1888A

p.G599S
p.G630S

33.0

8.481E-5

Li2017 T

NRXN2

13946.p1

chr11:
64403571-64403571

T

G

intronic

De novo

-

Turner2016 G

NRXN2

Cukier2014:17478

chr11:
64453180-64453180

C

T

exonic

Unknown

nonsynonymous SNV

NM_138732
NM_015080

c.G1018A
c.G1090A

p.V340I
p.V364I

15.51

8.0E-4

Cukier2014 E

Source Variant Information

, -

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 notes	View
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