Variant Results

or

Results for "NELL1"

Variant Events: 86

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

NELL1

AU072504

chr11:
20782546-20782546

G

C

intronic

De novo

-

Yuen2017 G

NELL1

AU_328

chr11:
20691269-20691269

G

C

UTR5

De novo

-

Fu2022 E
Satterstrom2020 E

NELL1

2-1497-003

chr11:
21599496-21599512

AACACACACACACACAC

AACACACACACACAC

intergenic

De novo

-

Yuen2017 G

NELL1

2-1426-003

chr11:
21732542-21732542

G

T

intergenic

De novo

-

Yuen2017 G

NELL1

AU4056302

chr11:
20765234-20765234

T

G

intronic

De novo

-

Yuen2017 G

NELL1

13539.p1

chr11:
20703895-20703895

A

G

intronic

De novo

-

Turner2016 G

NELL1

2-1315-003

chr11:
21535028-21535028

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NELL1

AU061104

chr11:
21110038-21110038

A

G

intronic

De novo

-

Yuen2017 G

NELL1

2-1318-004

chr11:
21513521-21513521

T

G

intronic

De novo

-

Yuen2017 G

NELL1

2-1335-003

chr11:
22022341-22022341

T

G

intergenic

De novo

-

Yuen2017 G

NELL1

2-1206-003

chr11:
21810330-21810330

G

C

intergenic

De novo

-

Yuen2017 G

NELL1

AU1933302

chr11:
21706969-21706969

C

T

intergenic

De novo

-

Yuen2017 G

NELL1

G01_GEA530HI

chr11:
21594636-21594636

T

G

intronic

De novo

-

Fu2022 E

NELL1

AU061003

chr11:
20957925-20957929

GATCT

G

intronic

De novo

-

Yuen2017 G

NELL1

2-0297-004

chr11:
21013316-21013321

CCACAC

CCAC

intronic

De novo

-

Yuen2017 G

NELL1

2-0244-003

chr11:
22178519-22178519

T

C

intergenic

De novo

-

Yuen2017 G

NELL1

AU4264302

chr11:
20862865-20862865

G

T

intronic

De novo

-

Yuen2017 G

NELL1

AU3859301

chr11:
20982962-20982962

T

C

intronic

De novo

-

Yuen2017 G

NELL1

AU4336301

chr11:
21082095-21082095

G

C

intronic

De novo

-

Yuen2017 G

NELL1

1-0007-003

chr11:
21460565-21460565

C

T

intronic

De novo

-

Yuen2017 G

NELL1

1-0651-003

chr11:
22135527-22135527

G

T

intergenic

De novo

-

Yuen2017 G

NELL1

2-0142-004

chr11:
21071006-21071006

C

G

intronic

De novo

-

Yuen2017 G

NELL1

1-0377-003

chr11:
21802080-21802080

G

A

intergenic

De novo

-

Yuen2017 G

NELL1

1-0144-005

chr11:
21083789-21083789

T

G

intronic

De novo

-

Yuen2017 G

NELL1

AU3634301

chr11:
21042434-21042434

A

C

intronic

De novo

-

Yuen2017 G

NELL1

1-0068-003

chr11:
21091166-21091166

T

C

intronic

De novo

-

Yuen2017 G

NELL1

AU2139301

chr11:
21173871-21173871

G

A

intronic

De novo

-

Yuen2017 G

NELL1

AU3517302

chr11:
21051265-21051265

A

G

intronic

De novo

-

Yuen2017 G

NELL1

13606.p1

chr11:
21883790-21883794

CTTAC

TTTAT

intergenic

Maternal

-

Wilfert2021 G

NELL1

2-1188-003

chr11:
21997979-21997979

C

A

intergenic

De novo

-

Yuen2017 G

NELL1

AU079204

chr11:
20861362-20861365

CAGA

CA

intronic

De novo

-

Yuen2017 G

NELL1

AU3765303

chr11:
22041156-22041156

C

A

intergenic

De novo

-

Yuen2017 G

NELL1

7-0135-003

chr11:
21628195-21628195

G

C

intergenic

De novo

-

Yuen2017 G

NELL1

AU038703

chr11:
21334367-21334367

C

A

intronic

De novo

-

Yuen2017 G

NELL1

5-0064-003

chr11:
21494311-21494311

C

A

intronic

De novo

-

Yuen2017 G

NELL1

AU4452302

chr11:
22011593-22011593

G

A

intergenic

De novo

-

Yuen2017 G

NELL1

2-1715-004

chr11:
21148441-21148446

TAAGTC

T

intronic

De novo

-

Yuen2017 G

NELL1

2-1507-003

chr11:
21400075-21400076

TC

T

intronic

De novo

-

Yuen2017 G

NELL1

AU027506

chr11:
20941624-20941628

GAAAA

GAAA

intronic

De novo

-

Yuen2017 G

NELL1

AU3724302

chr11:
21402235-21402235

T

C

intronic

De novo

-

Yuen2017 G

NELL1

1-0010-005

chr11:
21488119-21488121

CTT

C

intronic

De novo

-

Yuen2017 G

NELL1

AU060004

chr11:
21952567-21952567

A

G

intergenic

De novo

-

Yuen2017 G

NELL1

2-1306-004

chr11:
21510014-21510014

G

C

intronic

De novo

-

Yuen2017 G

NELL1

AU4072303

chr11:
21888388-21888388

C

T

intergenic

De novo

-

Yuen2017 G

NELL1

1-0323-004

chr11:
21961809-21961809

G

T

intergenic

De novo

-

Yuen2017 G

NELL1

AU4072303

chr11:
21896256-21896256

C

G

intergenic

De novo

-

Yuen2017 G

NELL1

AU002903

chr11:
21098443-21098443

T

C

intronic

De novo

-

Yuen2017 G

NELL1

5-0050-004

chr11:
21065045-21065045

C

T

intronic

De novo

-

Yuen2017 G

NELL1

1-0671-003

chr11:
22212653-22212653

G

C

intergenic

De novo

-

Yuen2017 G

NELL1

AU2029303

chr11:
20997757-20997761

GATAT

GAT

intronic

De novo

-

Yuen2017 G

NELL1

2-1306-003

chr11:
21510014-21510014

G

C

intronic

De novo

-

Yuen2017 G

NELL1

1-0638-003

chr11:
21143021-21143021

C

G

intronic

De novo

-

Yuen2017 G

NELL1

2-1549-003

chr11:
21476089-21476089

A

G

intronic

De novo

-

Yuen2017 G

NELL1

2-1425-003

chr11:
21750121-21750121

C

T

intergenic

De novo

-

Yuen2017 G

NELL1

2-1163-003

chr11:
21195295-21195310

ATGTGTGTGTGTGTGT

ATGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

NELL1

AU4243302

chr11:
20997903-20997903

C

G

intronic

De novo

-

Yuen2017 G

NELL1

5-0105-003

chr11:
21849139-21849139

G

C

intergenic

De novo

-

Yuen2017 G

NELL1

2-0145-003

chr11:
22141787-22141787

G

C

intergenic

De novo

-

Yuen2017 G

NELL1

AU005213

chr11:
21550596-21550596

T

C

intronic

De novo

-

Yuen2017 G

NELL1

2-1508-004

chr11:
21940670-21940670

G

A

intergenic

De novo

-

Yuen2017 G

NELL1

AU4315302

chr11:
21463016-21463016

C

T

intronic

De novo

-

Yuen2017 G

NELL1

2-1308-003

chr11:
21108086-21108086

T

A

intronic

De novo

-

Yuen2016 G

NELL1

2-0319-004

chr11:
21383679-21383679

A

AC

intronic

De novo

-

Yuen2017 G

NELL1

2-0238-004

chr11:
20964156-20964156

C

A

intronic

De novo

-

Yuen2017 G

NELL1

1-0466-003

chr11:
21678347-21678347

C

A

intergenic

De novo

-

Yuen2017 G

NELL1

1-0652-004

chr11:
21405732-21405732

C

T

intronic

De novo

-

Yuen2017 G

NELL1

AU012803

chr11:
20999910-20999910

C

A

intronic

De novo

-

Yuen2017 G

NELL1

1-0121-003

chr11:
21814956-21814956

C

T

intergenic

De novo

-

Yuen2017 G

NELL1

2-0081-003

chr11:
21406247-21406247

G

GT

intronic

De novo

-

Yuen2017 G

NELL1

2-1456-003

chr11:
21462238-21462238

G

T

intronic

De novo

-

Yuen2017 G

NELL1

2-1231-003

chr11:
20963562-20963571

TCTTACTTAC

TCTTAC

intronic

De novo

-

Yuen2017 G

NELL1

AU4013303

chr11:
20811099-20811099

C

G

intronic

De novo

-

Yuen2017 G

NELL1

5-0041-003

chr11:
21076540-21076540

A

T

intronic

De novo

-

Yuen2017 G

NELL1

1-0259-005

chr11:
20794404-20794404

C

T

intronic

De novo

-

Yuen2017 G

NELL1

AU015903

chr11:
21607782-21607782

T

C

intergenic

De novo

-

Yuen2017 G

NELL1

AU2029302

chr11:
20997757-20997761

GATAT

GAT

intronic

De novo

-

Yuen2017 G

NELL1

AU3881301

chr11:
21469312-21469312

C

A

intronic

De novo

-

Yuen2017 G

NELL1

AU015903

chr11:
21651116-21651116

G

A

intergenic

De novo

-

Yuen2017 G

NELL1

2-1346-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2016 G

NELL1

2-1644-003

chr11:
20934830-20934830

C

G

intronic

De novo

-

Yuen2017 G

NELL1

AU4060306

chr11:
21855754-21855754

C

G

intergenic

De novo

-

Yuen2017 G

NELL1

2-1341-003

chr11:
21791377-21791377

G

A

intergenic

De novo

-

Yuen2017 G

NELL1

1-0303-004

chr11:
21671965-21671965

T

G

intergenic

De novo

-

Yuen2017 G

NELL1

2-1207-003

chr11:
22023508-22023508

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NELL1

2-1114-003

chr11:
21866141-21866141

G

T

intergenic

De novo

-

Yuen2017 G

NELL1

3-0432-000

chr11:
20954195-20954195

G

A

intronic

De novo

-

Yuen2016 G
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
	More