Variant Results

or

Results for "CNTN3"

Variant Events: 111

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

CNTN3

14590.p1

chr3:
74618317-74618317

C

A

intergenic

De novo

-

Turner2016 G

CNTN3

11194.p1

chr3:
74917735-74917735

G

T

intergenic

De novo

-

Turner2016 G

CNTN3

AU1521301

chr3:
73830574-73830574

G

T

intergenic

De novo

-

Yuen2017 G

CNTN3

AU4379301

chr3:
74362846-74362846

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNTN3

12680.p1

chr3:
74222098-74222098

G

T

intergenic

De novo

-

Turner2016 G

CNTN3

14482.p1

chr3:
74413343-74413343

T

C

intronic

De novo

-

Turner2016 G

CNTN3

111292

chr3:
74474010-74474010

G

A

exonic

nonsynonymous SNV

NM_020872

c.C440T

p.P147L

20.6

-

Woodbury-Smith2022 E

CNTN3

AU3853302

chr3:
74391882-74391882

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNTN3

2-0012-004

chr3:
74001948-74001948

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

2-1384-003

chr3:
75194026-75194026

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

AU4079301

chr3:
74959142-74959142

G

A

intergenic

De novo

-

Yuen2017 G

CNTN3

7-0002-003

chr3:
73933958-73933958

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

1-0261-004

chr3:
74020059-74020063

GATCA

G

intergenic

De novo

-

Yuen2017 G

CNTN3

A26

chr3:
74120798-74120798

T

C

intergenic

De novo

-

Wu2018 G

CNTN3

1-0484-003

chr3:
73684949-73684949

T

C

intergenic

De novo

-

Yuen2017 G

CNTN3

AU050604

chr3:
73752694-73752694

A

G

intergenic

De novo

-

Yuen2017 G

CNTN3

2-1581-003

chr3:
74630350-74630350

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

7-0253-003

chr3:
74194942-74194942

A

G

intergenic

De novo

-

Yuen2017 G

CNTN3

AU055603

chr3:
74452709-74452709

T

C

intronic

De novo

-

Trost2022 G

CNTN3

1-0333-003

chr3:
74457048-74457048

G

C

intronic

De novo

-

Trost2022 G

CNTN3

1-1155-003

chr3:
74390528-74390528

C

T

intronic

De novo

-

Trost2022 G

CNTN3

MSSNG00243-003

chr3:
74409831-74409831

T

C

intronic

De novo

-

Trost2022 G

CNTN3

AU2320301

chr3:
74381749-74381749

T

G

intronic

De novo

-

Trost2022 G

CNTN3

1-1201-003

chr3:
74390393-74390393

G

C

intronic

De novo

-

Trost2022 G

CNTN3

1-0394-003

chr3:
74070654-74070654

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

1-0217-003

chr3:
74331227-74331227

G

A

intronic

De novo

-

Trost2022 G

CNTN3

AU4015301

chr3:
74582471-74582471

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

7-0346-003

chr3:
74364154-74364154

C

CA

intronic

De novo

-

Trost2022 G

CNTN3

1-0763-003

chr3:
73957915-73957915

G

A

intergenic

De novo

-

Yuen2017 G

CNTN3

MT_78.3

chr3:
74555623-74555623

C

T

intronic

De novo

-

Trost2022 G

CNTN3

AU4410302

chr3:
73979448-73979448

G

C

intergenic

De novo

-

Yuen2017 G

CNTN3

3-0103-000

chr3:
74548630-74548630

T

C

intronic

De novo

-

Trost2022 G

CNTN3

1-0138-003

chr3:
74765701-74765701

G

T

intergenic

De novo

-

Yuen2017 G

CNTN3

AU038204

chr3:
75146109-75146109

T

C

intergenic

De novo

-

Yuen2017 G

CNTN3

3-0191-000

chr3:
74549593-74549593

A

C

intronic

De novo

-

Trost2022 G

CNTN3

5-0512-005

chr3:
74468157-74468157

A

T

intronic

De novo

-

Trost2022 G

CNTN3

AU3849302

chr3:
74121899-74121899

G

T

intergenic

De novo

-

Yuen2017 G

CNTN3

AU023012

chr3:
74486714-74486714

T

A

intronic

De novo

-

Trost2022 G

CNTN3

AU4260303

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

CNTN3

1-0065-005

chr3:
74127327-74127327

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

AU3794301

chr3:
74953649-74953649

T

C

intergenic

De novo

-

Yuen2017 G

CNTN3

2-1170-003

chr3:
75194048-75194048

G

A

intergenic

De novo

-

Yuen2017 G

CNTN3

2-0298-003

chr3:
74397726-74397726

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNTN3

7-0082-003

chr3:
74628272-74628272

C

A

intergenic

De novo

-

Yuen2017 G

CNTN3

7-0219-003

chr3:
74843234-74843234

C

A

intergenic

De novo

-

Yuen2017 G

CNTN3

1-0191-004

chr3:
74828264-74828264

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

AU3713301

chr3:
74115830-74115830

G

A

intergenic

De novo

-

Yuen2017 G

CNTN3

F1-003

chr3:
74334560-74334560

C

T

exonic

Paternal

nonsynonymous SNV

NM_020872

c.G2600A

p.R867Q

9.922

0.0318

Vaags2012 E

CNTN3

1-0226-005

chr3:
74186246-74186246

T

C

intergenic

De novo

-

Yuen2017 G

CNTN3

AU4033304

chr3:
73966476-73966476

A

G

intergenic

De novo

-

Yuen2017 G

CNTN3

1-0305-004

chr3:
74934245-74934245

T

C

intergenic

De novo

-

Yuen2017 G

CNTN3

AU2139303

chr3:
74703801-74703801

T

C

intergenic

De novo

-

Yuen2017 G

CNTN3

1-0303-003

chr3:
74649497-74649497

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

AU046703

chr3:
74844538-74844538

A

C

intergenic

De novo

-

Yuen2017 G

CNTN3

13076.p1

chr3:
73873772-73873776

CAAAT

C

intergenic

De novo

-

Werling2018 G

CNTN3

7-0127-003

chr3:
74860441-74860444

AGGG

A

intergenic

De novo

-

Yuen2017 G

CNTN3

1-0028-003

chr3:
74104342-74104342

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

1-0184-003

chr3:
73788583-73788583

C

A

intergenic

De novo

-

Yuen2017 G

CNTN3

AU4467302

chr3:
74664123-74664123

G

A

intergenic

De novo

-

Yuen2017 G

CNTN3

1-0552-003

chr3:
73949448-73949465

AAGAGAGAGAGAGAGAGA

AAGAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

CNTN3

AU043804

chr3:
75020540-75020540

G

A

intergenic

De novo

-

Yuen2017 G

CNTN3

AU003403

chr3:
74268640-74268640

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

14244.p1

chr3:
73795863-73795863

G

A

intergenic

De novo

-

Wilfert2021 G

CNTN3

1-0265-003

chr3:
74985218-74985218

T

TC

intergenic

De novo

-

Yuen2017 G

CNTN3

1-0006-003

chr3:
73686874-73686874

T

G

intergenic

De novo

-

Yuen2017 G

CNTN3

3-0458-000

chr3:
74488438-74488438

A

G

intronic

De novo

-

Yuen2016 G

CNTN3

3-0458-000A

chr3:
74488438-74488438

A

G

intronic

De novo

-

Yuen2017 G

CNTN3

7-0095-003

chr3:
74760625-74760625

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

AU4344301

chr3:
74492093-74492093

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNTN3

AU076808

chr3:
74867255-74867255

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

5-0017-003

chr3:
73934230-73934231

AT

A

intergenic

De novo

-

Yuen2017 G

CNTN3

1-0320-004

chr3:
74513862-74513862

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNTN3

7-0058-003

chr3:
73981891-73981891

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

1-0385-003

chr3:
74808009-74808009

A

G

intergenic

De novo

-

Yuen2017 G

CNTN3

1-0112-004

chr3:
74765671-74765671

C

CAA

intergenic

De novo

-

Yuen2017 G

CNTN3

AU4168306

chr3:
74444921-74444921

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNTN3

2-0003-003

chr3:
74992622-74992626

ATTGT

A

intergenic

De novo

-

Yuen2017 G

CNTN3

AU015903

chr3:
74616203-74616203

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

1-0261-003

chr3:
74020059-74020063

GATCA

G

intergenic

De novo

-

Yuen2017 G

CNTN3

1-0150-003

chr3:
74798877-74798877

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

A000193

chr3:
74420507-74420507

A

G

exonic

De novo

synonymous SNV

NM_020872

c.T498C

p.V166V

-

Fu2022 E

CNTN3

2-1529-003

chr3:
73997762-73997775

TTATATATATATAT

TTATATATATAT

intergenic

De novo

-

Yuen2017 G

CNTN3

1-0161-004

chr3:
73697680-73697680

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

1-0197-004

chr3:
74889512-74889512

A

ATAGAGAT

intergenic

De novo

-

Yuen2017 G

CNTN3

2-0223-003

chr3:
74760762-74760762

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

2-0299-005

chr3:
74574614-74574614

G

A

intergenic

De novo

-

Yuen2017 G

CNTN3

2-0223-003

chr3:
74757195-74757195

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

2-0223-003

chr3:
74756047-74756047

T

G

intergenic

De novo

-

Yuen2017 G

CNTN3

2-0122-003

chr3:
74455998-74455998

G

C

intronic

De novo

-

Yuen2017 G

CNTN3

1-0295-003

chr3:
75227766-75227766

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

AU075803

chr3:
74660365-74660365

A

G

intergenic

De novo

-

Yuen2017 G

CNTN3

7-0012-003

chr3:
74549275-74549275

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNTN3

1-0404-003

chr3:
73772520-73772520

G

C

intergenic

De novo

-

Yuen2017 G

CNTN3

5-0146-003

chr3:
74940000-74940000

G

A

intergenic

De novo

-

Yuen2017 G

CNTN3

AU3900301

chr3:
73888072-73888077

GAACAA

GAA

intergenic

De novo

-

Yuen2017 G

CNTN3

AU4191302

chr3:
74356541-74356541

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNTN3

2-0022-004

chr3:
75016289-75016289

A

G

intergenic

De novo

-

Yuen2017 G

CNTN3

AU3765302

chr3:
74416263-74416263

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNTN3

1-0253-004

chr3:
75115783-75115783

C

G

intergenic

De novo

-

Yuen2017 G

CNTN3

AU2140305

chr3:
74304345-74304345

A

T

intergenic

De novo

-

Yuen2017 G

CNTN3

1-0806-003

chr3:
73751926-73751926

T

G

intergenic

De novo

-

Yuen2017 G

CNTN3

1-0593-003

chr3:
73962071-73962071

T

C

intergenic

De novo

-

Yuen2017 G

CNTN3

3-0458-000B

chr3:
74488438-74488438

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNTN3

2-1511-003

chr3:
74624433-74624433

C

T

intergenic

De novo

-

Yuen2017 G

CNTN3

AU4211304

chr3:
74434225-74434225

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNTN3

2-1391-004

chr3:
74524293-74524293

T

TATGGGGTTAAGC

intronic

De novo

-

Trost2022 G
Yuen2017 G

CNTN3

2-1176-003

chr3:
73776820-73776820

G

A

intergenic

De novo

-

Yuen2017 G

CNTN3

2-1343-003

chr3:
74542505-74542505

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CNTN3

2-0135-003

chr3:
74754687-74754687

G

A

intergenic

De novo

-

Yuen2017 G

CNTN3

AU030703

chr3:
74600186-74600186

T

C

intergenic

De novo

-

Yuen2017 G

CNTN3

AU1795302

chr3:
75132526-75132526

T

G

intergenic

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
	More