Variant Results

or

Results for "DCC"

Variant Events: 73

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

DCC

2-0149-004

chr18:
51072829-51072829

C

T

intergenic

De novo

-

Yuen2017 G

DCC

AU0780302

chr18:
50858610-50858610

C

G

intronic

De novo

-

Yuen2017 G

DCC

AU3861301

chr18:
50924607-50924607

G

A

intronic

De novo

-

Yuen2017 G

DCC

AU0146302

chr18:
50057325-50057325

G

C

intronic

De novo

-

Yuen2017 G

DCC

5-0015-004

chr18:
50122891-50122891

T

G

intronic

De novo

-

Yuen2017 G

DCC

7-0251-003

chr18:
50048697-50048697

G

A

intronic

De novo

-

Yuen2017 G

DCC

2-1300-003

chr18:
49900999-49900999

C

A

intronic

De novo

-

Yuen2017 G

DCC

1-0393-003

chr18:
50627012-50627023

GAAGAAAGAAAG

GAAGAAAG

intronic

De novo

-

Yuen2017 G

DCC

2-1314-003

chr18:
50594111-50594111

T

TT

intronic

De novo

-

Yuen2016 G

DCC

3-0134-000

chr18:
50352603-50352603

A

AT

intronic

De novo

-

Yuen2017 G

DCC

AU0039303

chr18:
50231567-50231567

C

T

intronic

De novo

-

Yuen2017 G

DCC

12449.p1

chr18:
50900905-50900905

G

T

intronic

De novo

-

Turner2016 G

DCC

2-0286-003

chr18:
50217395-50217395

G

A

intronic

De novo

-

Yuen2017 G

DCC

5-0129-003

chr18:
50938987-50938987

T

G

intronic

De novo

-

Yuen2017 G

DCC

PN400470

chr18:
51025796-51025796

C

T

exonic

Unknown

nonsynonymous SNV

NM_005215

c.C4027T

p.R1343C

14.95

7.415E-5

Leblond2019 E

DCC

PN400530

chr18:
51025796-51025796

C

T

exonic

Unknown

nonsynonymous SNV

NM_005215

c.C4027T

p.R1343C

14.95

7.415E-5

Leblond2019 E

DCC

1-0025-004

chr18:
50305639-50305639

A

G

intronic

De novo

-

Yuen2017 G

DCC

1-0652-004

chr18:
50709256-50709256

G

A

intronic

De novo

-

Yuen2017 G

DCC

AU079605

chr18:
49908247-49908247

T

C

intronic

De novo

-

Yuen2017 G

DCC

1-0486-003

chr18:
50736435-50736435

A

G

intronic

De novo

-

Yuen2017 G

DCC

2-1308-003

chr18:
49966779-49966779

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DCC

3-0307-000

chr18:
51043671-51043671

G

A

intronic

De novo

-

Yuen2017 G

DCC

1-0219-003

chr18:
50697924-50697924

T

A

intronic

De novo

-

Yuen2017 G

DCC

12764.p1

chr18:
50848414-50848414

T

C

intronic

De novo

-

9.897E-5

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

DCC

7-0024-005

chr18:
50705919-50705919

C

T

intronic

De novo

-

Yuen2017 G

DCC

2-1369-003

chr18:
50659534-50659534

G

A

intronic

De novo

-

Yuen2017 G

DCC

2-1646-003

chr18:
50317727-50317727

C

T

intronic

De novo

-

Yuen2017 G

DCC

AU2129301

chr18:
50253759-50253759

A

G

intronic

De novo

-

Yuen2017 G

DCC

1-0661-003

chr18:
50887540-50887540

C

T

intronic

De novo

-

Yuen2017 G

DCC

AU3617302

chr18:
50939451-50939451

T

C

intronic

De novo

-

Yuen2017 G

DCC

2-0238-003

chr18:
50287503-50287503

A

C

intronic

De novo

-

Yuen2017 G

DCC

7-0123-003

chr18:
50911316-50911316

C

A

intronic

De novo

-

Yuen2017 G

DCC

AU3764302

chr18:
50552831-50552831

T

C

intronic

De novo

-

Yuen2017 G

DCC

AU3728301

chr18:
50418865-50418865

G

A

intronic

De novo

-

Yuen2017 G

DCC

1-0126-003

chr18:
49998343-49998343

G

A

intronic

De novo

-

Yuen2017 G

DCC

2-1577-003

chr18:
51008488-51008493

GAAAAA

GAAAA

intronic

De novo

-

Yuen2017 G

DCC

AU075207

chr18:
50611626-50611626

A

G

intronic

De novo

-

Yuen2017 G

DCC

AU3053301

chr18:
50658820-50658820

C

T

intronic

De novo

-

Yuen2017 G

DCC

2-1577-003

chr18:
50894791-50894794

CAAT

C

intronic

De novo

-

Yuen2017 G

DCC

AU028305

chr18:
50536251-50536251

A

G

intronic

De novo

-

Yuen2017 G

DCC

1-0006-003

chr18:
50837500-50837500

A

ATTTATTTTATTTATT

intronic

De novo

-

Yuen2017 G

DCC

2-0320-003

chr18:
50893741-50893741

T

C

intronic

De novo

-

Yuen2017 G

DCC

7-0078-003

chr18:
50145166-50145166

T

A

intronic

De novo

-

Yuen2017 G

DCC

AU3912301

chr18:
50522509-50522509

C

T

intronic

De novo

-

Yuen2017 G

DCC

2-1184-003

chr18:
49911011-49911012

CA

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DCC

AU2293302

chr18:
50847816-50847816

G

A

intronic

De novo

-

Yuen2017 G

DCC

AU3885304

chr18:
50982744-50982744

T

C

intronic

De novo

-

Yuen2017 G

DCC

2-1645-003

chr18:
50353215-50353215

A

G

intronic

De novo

-

Yuen2017 G

DCC

AU002405

chr18:
50329151-50329151

C

T

intronic

De novo

-

Yuen2017 G

DCC

2-1441-003

chr18:
50547924-50547924

G

A

intronic

De novo

-

Yuen2017 G

DCC

AU4452302

chr18:
51020772-51020778

ACAGTGG

A

intronic

De novo

-

Yuen2017 G

DCC

2-1619-003

chr18:
50688572-50688572

G

C

intronic

De novo

-

Yuen2017 G

DCC

2-1619-003

chr18:
50528520-50528520

G

A

intronic

De novo

-

Yuen2017 G

DCC

1-0025-006

chr18:
50340412-50340412

C

T

intronic

De novo

-

Yuen2017 G

DCC

1-0222-003

chr18:
50434867-50434867

G

C

intronic

De novo

-

Yuen2017 G

DCC

5-0106-003

chr18:
50402431-50402437

TTGATGT

TT

intronic

De novo

-

Yuen2017 G

DCC

1-0936-003

chr18:
50205726-50205726

T

C

intronic

De novo

-

Yuen2017 G

DCC

PN400554

chr18:
51025796-51025796

C

T

exonic

Unknown

nonsynonymous SNV

NM_005215

c.C4027T

p.R1343C

14.95

7.415E-5

Leblond2019 E

DCC

1-0522-003

chr18:
49957118-49957118

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DCC

2-1355-003

chr18:
50535855-50535855

T

C

intronic

De novo

-

Yuen2017 G

DCC

1-0868-003

chr18:
50520362-50520362

T

C

intronic

De novo

-

Yuen2017 G

DCC

1-0433-004

chr18:
49882916-49882916

T

C

intronic

De novo

-

Yuen2017 G

DCC

1-0595-005

chr18:
50913121-50913121

A

G

intronic

De novo

-

Yuen2017 G

DCC

AU4093301

chr18:
49963609-49963609

A

C

intronic

De novo

-

Yuen2017 G

DCC

NDAR_INVPA860MYW_wes1

chr18:
50918001-50918001

C

T

intronic

De novo

-

1.0E-4

Kosmicki2017 E
Satterstrom2020 E

DCC

AU072904

chr18:
50576264-50576264

C

T

intronic

De novo

-

Yuen2017 G

DCC

A2

chr18:
51085003-51085003

T

C

intergenic

De novo

-

Wu2018 G

DCC

AU4315302

chr18:
50083196-50083196

A

G

intronic

De novo

-

Yuen2017 G

DCC

11608.p1

chr18:
50432709-50432709

G

A

intronic

De novo

-

Krumm2015 E

DCC

2-1452-003

chr18:
51079982-51079982

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

DCC

AU3808304

chr18:
50208825-50208825

C

T

intronic

De novo

-

Yuen2017 G

DCC

2-0210-004

chr18:
50568775-50568775

G

C

intronic

De novo

-

Yuen2017 G

DCC

1-0010-003

chr18:
50545886-50545886

A

G

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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