Variant Results

or

Results for "NRXN3"

Variant Events: 127

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

NRXN3

AU079605

chr14:
79474073-79474073

C

T

intronic

De novo

-

Yuen2017 G

NRXN3

3-0432-000

chr14:
80139413-80139413

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NRXN3

11729.p1

chr14:
79434627-79434627

G

A

exonic

Mosaic Mat.

nonsynonymous SNV

NM_004796

c.G1961A

p.R654H

36.0

3.295E-5

Dou2017 E

NRXN3

2-0289-003

chr14:
80229748-80229748

A

AC

intronic

De novo

-

Yuen2017 G

NRXN3

14642.p1

chr14:
80247386-80247386

T

A

intronic

De novo

-

Turner2016 G

NRXN3

2-1505-003

chr14:
80476608-80476608

G

A

intergenic

De novo

-

Yuen2017 G

NRXN3

AU2793302

chr14:
80214272-80214272

G

A

intronic

De novo

-

Yuen2017 G

NRXN3

7-0080-003

chr14:
79707931-79707931

C

T

intronic

De novo

-

Yuen2017 G

NRXN3

12529.p1

chr14:
79589592-79589592

A

G

intronic

De novo

-

Turner2016 G

NRXN3

12498.p1

chr14:
79720555-79720555

C

T

intronic

De novo

-

Turner2016 G

NRXN3

AU2950302

chr14:
80344544-80344544

C

G

intergenic

De novo

-

Yuen2017 G

NRXN3

AU3617302

chr14:
80222935-80222939

GCCCC

GCCC

intronic

De novo

-

Yuen2017 G

NRXN3

2-1107-003

chr14:
78944239-78944252

TCACACACACACAC

TCACACACACAC

intronic

De novo

-

Yuen2017 G

NRXN3

AU1995302

chr14:
79722870-79722870

C

T

intronic

De novo

-

Yuen2017 G

NRXN3

CC1132.201

chr14:
79433557-79433557

A

G

exonic

De novo

nonsynonymous SNV

NM_004796

c.A1665G

p.I555M

16.71

-

Satterstrom2020 E

NRXN3

1-0092-004

chr14:
79763171-79763171

T

TAAA

intronic

De novo

-

Yuen2017 G

NRXN3

AU1698302

chr14:
79796610-79796616

TAAGAAG

TAAG

intronic

De novo

-

Yuen2017 G

NRXN3

2-1398-004

chr14:
80406660-80406660

G

A

intergenic

De novo

-

Yuen2017 G

NRXN3

AU200A

chr14:
80158587-80158587

G

A

exonic

De novo

nonsynonymous SNV

NM_001105250

c.G673A

p.E225K

23.2

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

NRXN3

1-0206-003

chr14:
79031255-79031255

A

G

intronic

De novo

-

Yuen2017 G

NRXN3

AU3702307

chr14:
79791998-79791998

T

G

intronic

De novo

-

Yuen2017 G

NRXN3

AU1521301

chr14:
79362809-79362809

C

T

intronic

De novo

-

Yuen2017 G

NRXN3

1-0300-004

chr14:
79398294-79398294

A

G

intronic

De novo

-

Yuen2017 G

NRXN3

1-0019-004

chr14:
79929590-79929590

A

G

intronic

De novo

-

Yuen2017 G

NRXN3

AU3124304

chr14:
80217532-80217532

C

A

intronic

De novo

-

Yuen2017 G

NRXN3

AU3861302

chr14:
79537831-79537831

T

A

intronic

De novo

-

Yuen2017 G

NRXN3

3-0456-000

chr14:
79179761-79179761

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NRXN3

1-0627-004

chr14:
79760984-79760984

C

A

intronic

De novo

-

Yuen2017 G

NRXN3

1-0296-003

chr14:
79238511-79238511

A

G

intronic

De novo

-

Yuen2017 G

NRXN3

2-1185-003

chr14:
80213092-80213092

A

T

intronic

De novo

-

Yuen2017 G

NRXN3

AU4089302

chr14:
79666460-79666460

A

G

intronic

De novo

-

Yuen2017 G

NRXN3

A22

chr14:
79849995-79849995

C

T

intronic

De novo

-

Wu2018 G

NRXN3

1-0265-004

chr14:
80489726-80489726

G

GTGTAT

intergenic

De novo

-

Yuen2017 G

NRXN3

2-0270-004

chr14:
78902975-78902975

G

A

intronic

De novo

-

Yuen2017 G

NRXN3

2-0215-003

chr14:
79871412-79871412

G

A

intronic

De novo

-

Yuen2017 G

NRXN3

5-0125-003

chr14:
80533025-80533025

T

C

intergenic

De novo

-

Yuen2017 G

NRXN3

1-0590-003

chr14:
80026314-80026331

TTGTGTGTGTGTGTGTGT

TTGTGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

NRXN3

AU2863303

chr14:
80211019-80211019

A

C

intronic

De novo

-

Yuen2017 G

NRXN3

AU2863303

chr14:
80500755-80500755

G

A

intergenic

De novo

-

Yuen2017 G

NRXN3

AU4015301

chr14:
79758049-79758049

A

G

intronic

De novo

-

Yuen2017 G

NRXN3

AU2075301

chr14:
79174035-79174035

T

C

intronic

De novo

-

Yuen2017 G

NRXN3

1-0080-003

chr14:
79990384-79990391

CTAAATAA

CTAA

intronic

De novo

-

Yuen2017 G

NRXN3

5-0138-003

chr14:
79281518-79281518

G

A

intronic

De novo

-

Yuen2017 G

NRXN3

1-0336-003

chr14:
79457379-79457379

G

A

intronic

De novo

-

Yuen2017 G

NRXN3

AU2495302

chr14:
79161242-79161242

G

A

intronic

De novo

-

Yuen2017 G

NRXN3

1-0447-003

chr14:
79704891-79704904

TACACACACACACA

TACACACACACA

intronic

De novo

-

Yuen2017 G

NRXN3

1-0665-003

chr14:
79430826-79430826

G

A

intronic

De novo

-

Yuen2017 G

NRXN3

1-0138-003

chr14:
79603146-79603146

C

T

intronic

De novo

-

Yuen2017 G

NRXN3

1-0138-003

chr14:
79235713-79235713

C

T

intronic

De novo

-

Yuen2017 G

NRXN3

AU2793303

chr14:
79034167-79034167

G

T

intronic

De novo

-

Yuen2017 G

NRXN3

1-0186-005

chr14:
79826330-79826330

G

A

intronic

De novo

-

Yuen2017 G

NRXN3

AU062204

chr14:
79248413-79248413

C

T

intronic

De novo

-

Yuen2017 G

NRXN3

2-0022-005

chr14:
79558786-79558786

T

C

intronic

De novo

-

Yuen2017 G

NRXN3

3-0456-000B

chr14:
79179761-79179761

C

T

intronic

De novo

-

Yuen2017 G

NRXN3

AU3053302

chr14:
79761376-79761376

G

A

intronic

De novo

-

Yuen2017 G

NRXN3

1-0380-003

chr14:
80179109-80179112

ACCT

A

intronic

De novo

-

Yuen2017 G

NRXN3

AU3645301

chr14:
79464113-79464113

T

G

intronic

De novo

-

Yuen2017 G

NRXN3

AU3955303

chr14:
79846662-79846662

T

G

intronic

De novo

-

Yuen2017 G

NRXN3

iHART1908

chr14:
79269981-79269981

A

G

exonic

De novo

nonsynonymous SNV

NM_004796

c.A944G

p.Y315C

17.58

-

Ruzzo2019 G

NRXN3

2-0002-005

chr14:
79118017-79118017

A

G

intronic

De novo

-

Yuen2017 G

NRXN3

2-1143-003

chr14:
80235740-80235740

G

A

intronic

De novo

-

Yuen2017 G

NRXN3

AU4007302

chr14:
79797011-79797011

C

T

intronic

De novo

-

Yuen2017 G

NRXN3

AU3263302

chr14:
79472793-79472793

G

A

intronic

De novo

-

Yuen2017 G

NRXN3

1-0560-003

chr14:
79427866-79427866

A

G

intronic

De novo

-

Yuen2017 G

NRXN3

2-1399-003

chr14:
79191911-79191911

C

T

intronic

De novo

-

Yuen2017 G

NRXN3

AU4145303

chr14:
79505122-79505122

G

A

intronic

De novo

-

Yuen2017 G

NRXN3

AU072005

chr14:
80320536-80320536

A

G

intronic

De novo

-

Yuen2017 G

NRXN3

1-0148-005

chr14:
79123837-79123837

C

A

intronic

De novo

-

Yuen2017 G

NRXN3

1-0458-005

chr14:
79545972-79545972

T

A

intronic

De novo

-

Yuen2017 G

NRXN3

AU3782303

chr14:
79714631-79714631

C

A

intronic

De novo

-

Yuen2017 G

NRXN3

1-0292-005

chr14:
78999815-78999815

G

T

intronic

De novo

-

Yuen2017 G

NRXN3

2-0135-004

chr14:
80121936-80121936

A

T

intronic

De novo

-

Yuen2017 G

NRXN3

1-0224-004

chr14:
79586842-79586842

A

C

intronic

De novo

-

Yuen2017 G

NRXN3

2-0214-003

chr14:
79070182-79070182

A

T

intronic

De novo

-

Yuen2017 G

NRXN3

AU3175303

chr14:
80267807-80267815

TTTGATTGA

TTTGA

intronic

De novo

-

Yuen2017 G

NRXN3

1-0755-003

chr14:
78915094-78915094

G

A

intronic

De novo

-

Yuen2017 G

NRXN3

2-1206-003

chr14:
79943136-79943136

T

G

intronic

De novo

-

Yuen2017 G

NRXN3

AU4176302

chr14:
79018184-79018185

AG

A

intronic

De novo

-

Yuen2017 G

NRXN3

2-0299-003

chr14:
78951661-78951661

C

G

intronic

De novo

-

Yuen2017 G

NRXN3

5-0018-003

chr14:
80356044-80356044

C

T

intergenic

De novo

-

Yuen2017 G

NRXN3

1-0863-003

chr14:
79408867-79408867

A

G

intronic

De novo

-

Yuen2017 G

NRXN3

1746_17au

chr14:
79423683-79423683

G

A

exonic

De novo

nonsynonymous SNV

NM_004796

c.G1255A

p.V419M

32.0

-

Fu2022 E

NRXN3

615-05-104639

chr14:
80158652-80158652

C

T

intronic

De novo

-

Satterstrom2020 E

NRXN3

1-0403-004

chr14:
79895973-79895973

G

A

intronic

De novo

-

Yuen2017 G

NRXN3

1-0336-004

chr14:
80200977-80200977

G

GTATC

intronic

De novo

-

Yuen2017 G

NRXN3

2-1268-003

chr14:
79616842-79616842

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NRXN3

2-1510-003

chr14:
78924069-78924069

T

C

intronic

De novo

-

Yuen2017 G

NRXN3

AU2525302

chr14:
80402105-80402105

C

G

intergenic

De novo

-

Yuen2017 G

NRXN3

1-0246-004

chr14:
79231387-79231387

A

G

intronic

De novo

-

Yuen2017 G

NRXN3

2-1254-003

chr14:
80078301-80078301

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NRXN3

1-0190-003

chr14:
80004933-80004933

G

C

intronic

De novo

-

Yuen2017 G

NRXN3

SP0092196

chr14:
79434726-79434726

G

A

intronic

De novo

-

8.81E-6

Fu2022 E

NRXN3

AU4286302

chr14:
80101501-80101501

C

G

intronic

De novo

-

Yuen2017 G

NRXN3

SP0071879

chr14:
79454485-79454485

G

C

splicing

De novo

splicing

19.95

-

Fu2022 E

NRXN3

1-0139-005

chr14:
80540505-80540505

T

G

intergenic

De novo

-

Yuen2017 G

NRXN3

1-0059-003

chr14:
79658772-79658772

A

G

intronic

De novo

-

Yuen2017 G

NRXN3

5-0054-003

chr14:
79455811-79455811

A

G

intronic

De novo

-

Yuen2017 G

NRXN3

AU3875301

chr14:
79074154-79074154

C

T

intronic

De novo

-

Yuen2017 G

NRXN3

2-1709-003

chr14:
79847446-79847446

A

G

intronic

De novo

-

Yuen2017 G

NRXN3

AU4344301

chr14:
80323811-80323811

T

C

intronic

De novo

-

Yuen2017 G

NRXN3

2-1302-003

chr14:
80193643-80193643

C

T

intronic

De novo

-

Yuen2017 G

NRXN3

CC1132_201

chr14:
79433557-79433557

A

G

exonic

De novo

nonsynonymous SNV

NM_004796

c.A1665G

p.I555M

16.71

-

Fu2022 E

NRXN3

1-0092-003

chr14:
80432632-80432632

G

A

intergenic

De novo

-

Yuen2017 G

NRXN3

AU031204

chr14:
79739147-79739147

T

A

intronic

De novo

-

Yuen2017 G

NRXN3

AU2248301

chr14:
80238710-80238710

C

G

intronic

De novo

-

Yuen2017 G

NRXN3

AU4468301

chr14:
79710900-79710900

C

T

intronic

De novo

-

Yuen2017 G

NRXN3

1-0257-003

chr14:
79111550-79111550

A

G

UTR5

De novo

23.0

-

Yuen2017 G

NRXN3

1-0385-003

chr14:
79316489-79316503

CAGAGAGAGAGAGAG

CAGAGAGAGAGAG

intronic

De novo

-

Yuen2017 G

NRXN3

13692.p1

chr14:
80028720-80028720

T

C

intronic

De novo

-

Wilfert2021 G

NRXN3

2-0307-004

chr14:
79314490-79314490

G

T

intronic

De novo

-

Yuen2017 G

NRXN3

AU3912303

chr14:
79383947-79383947

T

C

intronic

De novo

-

Yuen2017 G

NRXN3

AU1448301

chr14:
79970807-79970807

G

A

intronic

De novo

-

Yuen2017 G

NRXN3

2-1239-003

chr14:
79448652-79448652

C

A

intronic

De novo

-

Yuen2017 G

NRXN3

AU1795301

chr14:
79935375-79935375

C

T

intronic

De novo

-

Yuen2017 G

NRXN3

AU2000305

chr14:
78989326-78989326

T

G

intronic

De novo

-

Yuen2017 G

NRXN3

AU2293301

chr14:
79942598-79942598

C

T

intronic

De novo

-

Yuen2017 G

NRXN3

AU3808304

chr14:
79794123-79794123

G

A

intronic

De novo

-

Yuen2017 G

NRXN3

5-0004-003

chr14:
79115893-79115893

C

T

intronic

De novo

-

Yuen2017 G

NRXN3

Krgovic2022:027329

chr14:
79175983-79175983

C

T

exonic

Maternal

stopgain

NM_004796

c.C526T

p.R176X

39.0

-

Krgovic2022 E

NRXN3

1-0032-003

chr14:
80095504-80095504

A

AAATTTGTATC

intronic

De novo

-

Yuen2017 G

NRXN3

AU3889305

chr14:
78951731-78951731

G

A

intronic

De novo

-

Yuen2017 G

NRXN3

1-0973-003

chr14:
80158970-80158973

AGGG

AGG

intronic

De novo

-

Yuen2017 G

NRXN3

AU1894304

chr14:
80647066-80647066

T

C

intergenic

De novo

-

Yuen2017 G

NRXN3

1-0295-003

chr14:
80494933-80494933

C

T

intergenic

De novo

-

Yuen2017 G

NRXN3

1-0299-003

chr14:
79813582-79813582

A

G

intronic

De novo

-

Yuen2017 G

NRXN3

5-0129-003

chr14:
79179812-79179812

A

G

intronic

De novo

-

Yuen2017 G

NRXN3

1-0393-003

chr14:
79781047-79781047

G

A

intronic

De novo

-

Yuen2017 G

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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