Variant Results

or

Results for "CNTNAP5"

Variant Events: 153

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

CNTNAP5

2-1366-004

chr2:
125538214-125538214

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP5

13604.p1

chr2:
127087750-127087750

G

A

intergenic

De novo

-

Werling2018 G

CNTNAP5

1-0282-003

chr2:
125472716-125472716

G

A

intronic

De novo

-

Yuen2017 G

CNTNAP5

1-0336-003

chr2:
126293453-126293453

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU4235302

chr2:
125746234-125746234

G

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU3765303

chr2:
126232986-126232986

G

A

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-1452-003

chr2:
126724783-126724783

T

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-0158-003

chr2:
126102662-126102662

T

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU034904

chr2:
127143994-127143994

T

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU3680302

chr2:
125342536-125342536

G

A

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU1988301

chr2:
125461186-125461186

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP5

12568.p1

chr2:
125608083-125608083

T

C

intronic

De novo

-

Turner2016 G

CNTNAP5

14482.p1

chr2:
127171261-127171261

G

A

intergenic

De novo

-

Turner2016 G

CNTNAP5

3-0246-000

chr2:
124959863-124959863

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CNTNAP5

AU3808305

chr2:
125293789-125293789

A

G

intronic

De novo

-

Yuen2017 G

CNTNAP5

5-0095-003

chr2:
127275766-127275766

G

A

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0862-003

chr2:
125804910-125804910

T

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-1182-003

chr2:
126437390-126437390

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNTNAP5

1-0901-004

chr2:
127162158-127162158

G

A

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-1459-003

chr2:
126055140-126055140

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNTNAP5

1-0469-003

chr2:
125686555-125686556

AC

A

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0138-003

chr2:
125443553-125443553

T

C

intronic

De novo

-

Yuen2017 G

CNTNAP5

2-0110-003

chr2:
127020358-127020358

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNTNAP5

5-0131-003

chr2:
126068491-126068506

GGCAACTTTTATGAAA

G

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0080-003

chr2:
124959254-124959254

G

A

intronic

De novo

-

Yuen2017 G

CNTNAP5

2-1562-004

chr2:
124920612-124920612

T

C

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU2793303

chr2:
125914898-125914904

ATTTTTT

ATTTTTTT

intergenic

De novo

-

Yuen2017 G

CNTNAP5

7-0219-003

chr2:
127224816-127224816

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0289-003

chr2:
125447244-125447246

CGT

C

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU3874303

chr2:
127012009-127012009

T

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0554-003

chr2:
126853196-126853196

T

G

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0554-003

chr2:
125338770-125338770

A

T

intronic

De novo

-

Yuen2017 G

CNTNAP5

1-0554-003

chr2:
125338341-125338341

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU3716302

chr2:
126374463-126374463

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU4032306

chr2:
126434923-126434923

T

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0272-004

chr2:
125771013-125771013

T

TAAATAAAATA

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0569-003

chr2:
125689153-125689153

G

A

intergenic

De novo

-

Yuen2017 G

CNTNAP5

5-0077-004

chr2:
126397103-126397103

C

A

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU076705

chr2:
124810587-124810587

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP5

2-0002-005

chr2:
125000702-125000702

T

C

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU076705

chr2:
124810932-124810932

G

C

intronic

De novo

-

Yuen2017 G

CNTNAP5

F2-003

chr2:
125669092-125669092

G

A

exonic

Paternal

nonsynonymous SNV

NM_130773

c.G3701A

p.R1234Q

11.91

1.0E-4

Vaags2012 E

CNTNAP5

AU0039303

chr2:
125418674-125418674

G

C

intronic

De novo

-

Yuen2017 G

CNTNAP5

2-1730-003

chr2:
125449140-125449140

A

C

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU3913302

chr2:
126799432-126799432

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-1114-003

chr2:
126478505-126478505

G

A

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU4223302

chr2:
125555379-125555379

T

C

intronic

De novo

-

Yuen2017 G

CNTNAP5

7-0194-003

chr2:
124817331-124817331

G

A

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU3912302

chr2:
127101878-127101878

A

G

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0604-003

chr2:
126804330-126804339

CTGTGTGTGT

CTGTGTGT

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-1730-003

chr2:
126829382-126829382

T

A

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0604-003

chr2:
126258412-126258412

G

A

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-1730-003

chr2:
127393887-127393887

G

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU2109301

chr2:
125302506-125302506

A

T

intronic

De novo

-

Yuen2017 G

CNTNAP5

2-1143-003

chr2:
125567106-125567106

C

A

intronic

De novo

-

Yuen2017 G

CNTNAP5

1-0604-003

chr2:
127398408-127398422

CCTCTCTCTCTCTCT

CCTCTCTCTCTCT

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU3052302

chr2:
125737268-125737268

A

G

intergenic

De novo

-

Yuen2017 G

CNTNAP5

7-0194-003

chr2:
124817333-124817333

G

A

intronic

De novo

-

Yuen2017 G

CNTNAP5

7-0194-003

chr2:
127266718-127266718

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU3368302

chr2:
126368935-126368935

T

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-1693-003

chr2:
126199466-126199466

T

G

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0158-003

chr2:
125585892-125585913

ACTAAATATAAGAAAAATTAGC

A

intronic

De novo

-

Yuen2017 G

CNTNAP5

1-0224-004

chr2:
125449390-125449390

T

C

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU047904

chr2:
127361519-127361519

G

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

5-0014-004

chr2:
125158255-125158255

T

TG

intronic

De novo

-

Yuen2017 G

CNTNAP5

5-0033-004

chr2:
126995189-126995189

G

A

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0153-004

chr2:
127295084-127295085

CA

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-1174-006

chr2:
126851073-126851073

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-0264-004

chr2:
125337026-125337026

T

C

intronic

De novo

-

Yuen2017 G

CNTNAP5

2-1105-003

chr2:
125844428-125844428

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNTNAP5

2-1461-003

chr2:
125664532-125664532

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CNTNAP5

1-0252-003

chr2:
126447457-126447457

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-1365-003

chr2:
125211388-125211388

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CNTNAP5

AU061003

chr2:
127368286-127368286

T

G

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU017703

chr2:
124883662-124883662

G

C

intronic

De novo

-

Yuen2017 G

CNTNAP5

1-0068-003

chr2:
127288011-127288011

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0683-004

chr2:
125069718-125069718

A

T

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU3874301

chr2:
125769711-125769711

G

A

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU038703

chr2:
127409174-127409174

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0448-003

chr2:
125403902-125403902

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP5

1-0190-003

chr2:
124926521-124926521

T

C

intronic

De novo

-

Yuen2017 G

CNTNAP5

1-0489-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

CNTNAP5

AU3779302

chr2:
126044538-126044538

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-0320-003

chr2:
126931602-126931602

T

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0339-003

chr2:
125764099-125764130

GCTGAGAACGGCAGTACGTGTTGCAGGCGGCT

G

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU3918302

chr2:
125854127-125854127

A

G

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-1327-004

chr2:
127198213-127198213

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU1952305

chr2:
125446080-125446080

G

A

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU1952305

chr2:
127091743-127091743

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-0286-004

chr2:
125463784-125463784

T

G

intronic

De novo

-

Yuen2017 G

CNTNAP5

A7

chr2:
126136068-126136068

C

T

intergenic

De novo

-

Wu2018 G

CNTNAP5

2-1391-003

chr2:
125907994-125907994

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-0016-003

chr2:
127287177-127287177

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU031003

chr2:
124886202-124886202

G

A

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU047703

chr2:
125533111-125533111

G

A

intronic

De novo

-

Yuen2017 G

CNTNAP5

1-0193-003

chr2:
126628417-126628417

G

A

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-0318-004

chr2:
126751356-126751358

ATT

A

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-1152-003

chr2:
125842408-125842408

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNTNAP5

AU015903

chr2:
125402146-125402149

ATCT

AT

intronic

De novo

-

Yuen2017 G

CNTNAP5

2-1425-003

chr2:
125145583-125145583

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP5

2-0006-004

chr2:
126442757-126442757

C

A

intergenic

De novo

-

Yuen2017 G

CNTNAP5

7-0247-003

chr2:
125567587-125567587

A

G

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU4263304

chr2:
126838222-126838222

A

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-1629-003

chr2:
125466115-125466115

A

T

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU072904

chr2:
125333684-125333684

A

T

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU072504

chr2:
124907710-124907710

G

A

intronic

De novo

-

Yuen2017 G

CNTNAP5

1-0197-004

chr2:
125967910-125967910

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU3786301

chr2:
126767188-126767188

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

5-0077-003

chr2:
125907994-125907994

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0756-003

chr2:
126370716-126370716

G

GCCCGGCC

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-1166-003

chr2:
126049990-126049990

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNTNAP5

2-1280-003

chr2:
126759492-126759492

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNTNAP5

5-0077-003

chr2:
126397103-126397103

C

A

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0756-003

chr2:
125881342-125881342

G

GACCTATGTTAACCTGTGTTACAATTAC

intergenic

De novo

-

Yuen2017 G

CNTNAP5

5-0146-003

chr2:
125229157-125229157

G

T

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU3371305

chr2:
127057739-127057750

TTATATATATAT

TTATATATATATAT

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU3839303

chr2:
125225321-125225321

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU050603

chr2:
126315360-126315360

T

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0304-003

chr2:
126678089-126678089

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNTNAP5

09C84345

chr2:
125660657-125660657

C

T

exonic

De novo

nonsynonymous SNV

NM_130773

c.C3632T

p.T1211I

16.21

-

Fu2022 E

CNTNAP5

2-1290-004

chr2:
126656885-126656885

A

G

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0025-004

chr2:
126884717-126884717

G

A

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU2495301

chr2:
125733072-125733072

G

A

intergenic

De novo

-

Yuen2017 G

CNTNAP5

2-0210-004

chr2:
126329706-126329706

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU4159302

chr2:
124881542-124881542

G

T

intronic

De novo

-

Yuen2017 G

CNTNAP5

2-0323-003

chr2:
124897618-124897618

A

AAATC

intronic

De novo

-

Yuen2017 G

CNTNAP5

1507001

chr2:
125284870-125284870

G

A

exonic

De novo

nonsynonymous SNV

NM_130773

c.G1483A

p.D495N

12.79

3.0E-4

Satterstrom2020 E

CNTNAP5

AU2793302

chr2:
125253518-125253518

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP5

1-0079-008

chr2:
124909375-124909375

G

A

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU4159302

chr2:
126778401-126778401

G

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU4306302

chr2:
126223667-126223667

A

G

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0467-005

chr2:
125293308-125293308

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU3729301

chr2:
126579316-126579316

A

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU4069302

chr2:
125167162-125167163

AG

A

intronic

De novo

-

Yuen2017 G

CNTNAP5

iHART2924

chr2:
125547597-125547597

C

A

exonic

Maternal

stopgain

NM_130773

c.C2868A

p.C956X

43.0

-

Ruzzo2019 G

CNTNAP5

AU4314302

chr2:
125236681-125236681

T

C

intronic

De novo

-

Yuen2017 G

CNTNAP5

74-0115

chr2:
125647238-125647238

T

C

intronic

De novo

-

Michaelson2012 G

CNTNAP5

AU4219302

chr2:
125807511-125807511

A

G

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0339-004

chr2:
125764099-125764130

GCTGAGAACGGCAGTACGTGTTGCAGGCGGCT

G

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU3915301

chr2:
126211757-126211757

A

G

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0169-004

chr2:
127089560-127089560

G

A

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU4347301

chr2:
127303099-127303099

G

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU4433301

chr2:
127116874-127116874

T

G

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU3716301

chr2:
127136031-127136031

A

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

A13

chr2:
125920042-125920042

G

A

intergenic

De novo

-

Wu2018 G

CNTNAP5

2-1277-003

chr2:
125423649-125423649

G

A

intronic

De novo

-

Yuen2017 G

CNTNAP5

2-1526-003

chr2:
126822749-126822749

G

T

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU2248302

chr2:
127218177-127218177

T

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

AU3907302

chr2:
125119612-125119612

G

T

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU024607

chr2:
124836956-124836956

T

C

intronic

De novo

-

Yuen2017 G

CNTNAP5

AU3343301

chr2:
126947407-126947407

T

C

intergenic

De novo

-

Yuen2017 G

CNTNAP5

1-0464-003

chr2:
126660033-126660033

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNTNAP5

2-0242-005

chr2:
126046756-126046756

G

GT

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
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