Variant Results

or

Results for "NLGN1"

Variant Events: 74

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

NLGN1

AU3343301

chr3:
173288469-173288469

G

A

intronic

De novo

-

Yuen2017 G

NLGN1

7-0161-003

chr3:
174550508-174550508

A

G

intergenic

De novo

-

Yuen2017 G

NLGN1

AU075207

chr3:
174057934-174057934

G

A

intergenic

De novo

-

Yuen2017 G

NLGN1

1-0271-004

chr3:
173990811-173990814

CTGT

C

intronic

De novo

-

Yuen2017 G

NLGN1

1-0522-003

chr3:
173839621-173839621

A

G

intronic

De novo

-

Yuen2017 G

NLGN1

11729.p1

chr3:
173638653-173638653

G

C

intronic

De novo

-

Wilfert2021 G

NLGN1

2-1509-003

chr3:
173179236-173179236

T

A

intronic

De novo

-

Yuen2017 G

NLGN1

1-0508-003

chr3:
173788845-173788863

AAAATAAATAAATAAATAA

AAAATAAATAAATAA

intronic

De novo

-

Yuen2017 G

NLGN1

2-1567-004

chr3:
173967206-173967206

C

T

intronic

De novo

-

Yuen2017 G

NLGN1

7-0167-003

chr3:
173545877-173545877

G

A

intronic

De novo

-

Yuen2017 G

NLGN1

13532.p1

chr3:
173417141-173417141

C

T

intronic

De novo

-

Wilfert2021 G

NLGN1

1-0511-003

chr3:
173427124-173427124

A

G

intronic

De novo

-

Yuen2017 G

NLGN1

Lim2017:5921

chr3:
173999004-173999004

C

T

exonic

De novo

nonsynonymous SNV

NM_014932

c.C2383T

p.H795Y

13.59

8.29E-6

Lim2017 E

NLGN1

2-1645-003

chr3:
173941316-173941316

C

G

intronic

De novo

-

Yuen2017 G

NLGN1

2-1250-003

chr3:
173283305-173283305

A

G

intronic

De novo

-

Yuen2017 G

NLGN1

1-0113-003

chr3:
173665738-173665738

G

A

intronic

De novo

-

Yuen2016 G

NLGN1

2-1645-003

chr3:
173478220-173478220

A

C

intronic

De novo

-

Yuen2017 G

NLGN1

5-0147-003

chr3:
174176005-174176005

A

G

intergenic

De novo

-

Yuen2017 G

NLGN1

AU1848302

chr3:
173926786-173926786

T

C

intronic

De novo

-

Yuen2017 G

NLGN1

AU045512

chr3:
174421872-174421872

G

A

intergenic

De novo

-

Yuen2017 G

NLGN1

2-1169-003

chr3:
173996749-173996749

G

A

exonic

De novo

nonsynonymous SNV

NM_014932

c.G958A

p.V320I

22.2

8.997E-6

Yuen2015 G
Yuen2017 G

NLGN1

1-0367-003

chr3:
173724370-173724370

C

T

intronic

De novo

-

Yuen2017 G

NLGN1

1-0233-004

chr3:
173175256-173175256

A

G

intronic

De novo

-

Yuen2017 G

NLGN1

2-1459-003

chr3:
173396932-173396932

A

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NLGN1

7-0247-003

chr3:
174518646-174518646

T

G

intergenic

De novo

-

Yuen2017 G

NLGN1

5-0088-003

chr3:
173213683-173213683

A

G

intronic

De novo

-

Yuen2017 G

NLGN1

3-0080-000

chr3:
173739704-173739704

A

G

intronic

De novo

-

Yuen2017 G

NLGN1

2-0019-004

chr3:
173317743-173317743

A

G

intronic

De novo

-

Yuen2017 G

NLGN1

7-0171-003

chr3:
173196018-173196018

A

G

intronic

De novo

-

Yuen2017 G

NLGN1

AU066206

chr3:
174138695-174138695

A

C

intergenic

De novo

-

Yuen2017 G

NLGN1

12061.p1

chr3:
174462029-174462029

G

A

intergenic

De novo

-

Werling2018 G

NLGN1

2-1562-004

chr3:
173917005-173917005

G

A

intronic

De novo

-

Yuen2017 G

NLGN1

1-0546-003

chr3:
173206925-173206925

G

C

intronic

De novo

-

Yuen2017 G

NLGN1

AU3918301

chr3:
174286819-174286819

T

C

intergenic

De novo

-

Yuen2017 G

NLGN1

AU034903

chr3:
174250901-174250901

A

T

intergenic

De novo

-

Yuen2017 G

NLGN1

2-1246-003

chr3:
173866933-173866933

C

T

intronic

De novo

-

Yuen2017 G

NLGN1

AU3866301

chr3:
173574465-173574465

A

G

intronic

De novo

-

Yuen2017 G

NLGN1

1-0488-003

chr3:
173687506-173687506

A

G

intronic

De novo

-

Yuen2017 G

NLGN1

12157.p1

chr3:
173999004-173999004

C

T

exonic

De novo

nonsynonymous SNV

NM_014932

c.C2383T

p.H795Y

13.59

8.29E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G

NLGN1

5-0041-003

chr3:
173322947-173322947

A

G

intronic

De novo

-

Yuen2017 G

NLGN1

7-0032-003

chr3:
173185704-173185704

C

T

intronic

De novo

-

Yuen2017 G

NLGN1

63-449

chr3:
173587492-173587492

G

A

intronic

De novo

-

Michaelson2012 G

NLGN1

74-0355

chr3:
173687597-173687597

C

T

intronic

De novo

-

Michaelson2012 G

NLGN1

1-0701-003

chr3:
173399716-173399716

C

T

intronic

De novo

-

Yuen2017 G

NLGN1

AU079104

chr3:
173706228-173706228

T

A

intronic

De novo

-

Yuen2017 G

NLGN1

AU2123301

chr3:
173896452-173896452

T

G

intronic

De novo

-

Yuen2017 G

NLGN1

74-0075

chr3:
173240608-173240608

G

A

intronic

De novo

-

Michaelson2012 G

NLGN1

AU007503

chr3:
173240608-173240608

G

A

intronic

De novo

-

Yuen2017 G

NLGN1

1-0384-003

chr3:
173256559-173256559

G

A

intronic

De novo

-

Yuen2017 G

NLGN1

1-0175-004

chr3:
173432815-173432815

C

T

intronic

De novo

-

Yuen2017 G

NLGN1

2-0295-004

chr3:
173465821-173465821

C

G

intronic

De novo

-

Yuen2017 G

NLGN1

1-0344-003

chr3:
174497967-174497967

A

G

intergenic

De novo

-

Yuen2017 G

NLGN1

1-0344-003

chr3:
173908131-173908131

A

T

intronic

De novo

-

Yuen2017 G

NLGN1

AU066104

chr3:
173591940-173591940

A

G

intronic

De novo

-

Yuen2017 G

NLGN1

AU061104

chr3:
173453907-173453907

A

G

intronic

De novo

-

Yuen2017 G

NLGN1

AU4092302

chr3:
174147305-174147305

G

A

intergenic

De novo

-

Yuen2017 G

NLGN1

2-1297-004

chr3:
173770967-173770971

AACTT

A

intronic

De novo

-

Yuen2017 G

NLGN1

AU3787303

chr3:
174036494-174036494

G

A

intergenic

De novo

-

Yuen2017 G

NLGN1

AU3787303

chr3:
174312276-174312285

GTTCTTCTTC

GTTCTTC

intergenic

De novo

-

Yuen2017 G

NLGN1

1-0321-004

chr3:
173583394-173583394

C

G

intronic

De novo

-

Yuen2017 G

NLGN1

7-0103-003

chr3:
174488297-174488297

A

G

intergenic

De novo

-

Yuen2017 G

NLGN1

2-1341-003

chr3:
173900683-173900683

A

G

intronic

De novo

-

Yuen2017 G

NLGN1

1-0991-003

chr3:
174291792-174291792

A

G

intergenic

De novo

-

Yuen2017 G

NLGN1

7-0242-003

chr3:
173561048-173561048

C

T

intronic

De novo

-

Yuen2017 G

NLGN1

1-0175-003

chr3:
173432815-173432815

C

T

intronic

De novo

-

Yuen2017 G

NLGN1

AU031004

chr3:
173420599-173420599

T

C

intronic

De novo

-

Yuen2017 G

NLGN1

1-0339-004

chr3:
173539217-173539217

T

C

intronic

De novo

-

Yuen2017 G

NLGN1

2-0018-004

chr3:
174462116-174462116

T

TA

intergenic

De novo

-

Yuen2017 G

NLGN1

1-0567-004

chr3:
173449055-173449055

A

G

intronic

De novo

-

Yuen2017 G

NLGN1

13951.p1

chr3:
174077344-174077344

G

A

intergenic

De novo

-

Turner2016 G

NLGN1

1-0252-003

chr3:
173138329-173138329

C

T

intronic

De novo

-

Yuen2017 G

NLGN1

AU1860301

chr3:
173551100-173551100

G

T

intronic

De novo

-

Yuen2017 G

NLGN1

AU4476302

chr3:
174329405-174329405

G

A

intergenic

De novo

-

Yuen2017 G

NLGN1

14496.p1

chr3:
173184782-173184782

A

G

intronic

De novo

-

Turner2016 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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