Variant Results

or

Results for "DCBLD2"

Variant Events: 49

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

DCBLD2

1-0763-004

chr3:
98899398-98899398

C

T

intergenic

De novo

-

Yuen2017 G

DCBLD2

7-0254-004

chr3:
98777224-98777240

TCCTCCCTCCCTCCCTC

TCCTCCCTCCCTC

intergenic

De novo

-

Yuen2017 G

DCBLD2

AU3849303

chr3:
99078921-99078924

TCTG

T

intergenic

De novo

-

Yuen2017 G

DCBLD2

1-0119-004

chr3:
98549494-98549494

C

T

intronic

De novo

-

Yuen2017 G

DCBLD2

5-0030-003

chr3:
98895895-98895895

G

GAATAGCT

intergenic

De novo

-

Yuen2017 G

DCBLD2

1-0487-003

chr3:
98875933-98875933

A

C

intergenic

De novo

-

Yuen2017 G

DCBLD2

13951.p1

chr3:
98926679-98926679

T

G

intergenic

De novo

-

Turner2016 G

DCBLD2

1-0458-003

chr3:
98549311-98549311

A

T

intronic

De novo

-

Yuen2017 G

DCBLD2

7-0104-003

chr3:
98574325-98574325

T

C

intronic

De novo

-

Yuen2017 G

DCBLD2

1-0067-005

chr3:
98558432-98558432

A

G

intronic

De novo

-

Yuen2017 G

DCBLD2

AU3052301

chr3:
99217349-99217349

A

G

intergenic

De novo

-

Yuen2017 G

DCBLD2

AU3610302

chr3:
99111578-99111578

T

C

intergenic

De novo

-

Yuen2017 G

DCBLD2

AU2495302

chr3:
98778388-98778388

A

C

intergenic

De novo

-

Yuen2017 G

DCBLD2

1-0763-003

chr3:
98536538-98536538

T

C

intronic

De novo

-

Yuen2017 G

DCBLD2

1-0388-003

chr3:
99156038-99156038

A

G

intergenic

De novo

-

Yuen2017 G

DCBLD2

1-0054-004

chr3:
98549620-98549620

T

A

intronic

De novo

-

Yuen2017 G

DCBLD2

2-1177-003

chr3:
98744549-98744549

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

DCBLD2

AU3720302

chr3:
99130759-99130759

A

G

intergenic

De novo

-

Yuen2017 G

DCBLD2

DEASD_0059_001

chr3:
98519379-98519379

A

G

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

DCBLD2

AU4228301

chr3:
98517137-98517142

TAAAAA

TAAAA

UTR3

De novo

-

Yuen2017 G

DCBLD2

2-1356-003

chr3:
98533153-98533153

A

G

intronic

De novo

-

Yuen2017 G

DCBLD2

AU038204

chr3:
98852843-98852843

A

G

intergenic

De novo

-

Yuen2017 G

DCBLD2

2-1266-003

chr3:
99015402-99015402

C

A

intergenic

De novo

-

Yuen2017 G

DCBLD2

60-2027

chr3:
99193445-99193445

A

G

intergenic

De novo

-

Michaelson2012 G

DCBLD2

2-1567-003

chr3:
98611385-98611385

G

A

intronic

De novo

-

Yuen2017 G

DCBLD2

2-1283-004

chr3:
98549575-98549575

T

G

intronic

De novo

-

Yuen2017 G

DCBLD2

2-1254-003

chr3:
99002113-99002113

C

T

intergenic

De novo

-

Yuen2016 G

DCBLD2

5-0077-003

chr3:
98549494-98549494

C

T

intronic

De novo

-

Yuen2017 G

DCBLD2

2-1235-004

chr3:
98621631-98621631

G

A

intergenic

De novo

-

Yuen2017 G

DCBLD2

2-1522-003

chr3:
99088959-99088959

C

G

intergenic

De novo

-

Yuen2017 G

DCBLD2

7-0188-003

chr3:
99042427-99042427

G

A

intergenic

De novo

-

Yuen2017 G

DCBLD2

1-0885-003

chr3:
98567261-98567261

G

T

intronic

De novo

-

Yuen2017 G

DCBLD2

2-1169-004

chr3:
98980172-98980172

A

G

intergenic

De novo

-

Yuen2017 G

DCBLD2

AU4092302

chr3:
98964574-98964599

AAAAAAAAAAAAAAAAAAACAAAAAA

AAAAAAA

intergenic

De novo

-

Yuen2017 G

DCBLD2

Cukier2014:7658

chr3:
98600385-98600385

T

C

exonic

Unknown

nonsynonymous SNV

NM_080927

c.A432G

p.I144M

15.1

0.0406

Cukier2014 E

DCBLD2

1-0051-004

chr3:
98549575-98549575

T

G

intronic

De novo

-

Yuen2017 G

DCBLD2

1-0045-004

chr3:
98837978-98837978

C

T

intergenic

De novo

-

Yuen2017 G

DCBLD2

3-0134-000

chr3:
99151961-99151961

T

C

intergenic

De novo

-

Yuen2017 G

DCBLD2

SP0032837

chr3:
98538118-98538118

G

A

exonic

De novo

nonsynonymous SNV

NM_080927

c.C1015T

p.P339S

3.524

-

Feliciano2019 E

DCBLD2

2-1174-005B

chr3:
98549311-98549311

A

T

intronic

De novo

-

Yuen2017 G

DCBLD2

AU2485305

chr3:
99118210-99118210

C

A

intergenic

De novo

-

Yuen2017 G

DCBLD2

AU3398301

chr3:
99077025-99077025

A

G

intergenic

De novo

-

Yuen2017 G

DCBLD2

AU2756306

chr3:
99247680-99247680

G

A

intergenic

De novo

-

Yuen2017 G

DCBLD2

AU4152303

chr3:
98846721-98846721

C

T

intergenic

De novo

-

Yuen2017 G

DCBLD2

AU2117302

chr3:
98847985-98847985

T

C

intergenic

De novo

-

Yuen2017 G

DCBLD2

2-1174-006

chr3:
98549311-98549311

A

T

intronic

De novo

-

Yuen2017 G

DCBLD2

2-1591-003

chr3:
99148224-99148224

A

G

intergenic

De novo

-

Yuen2017 G

DCBLD2

5-0050-003

chr3:
98944902-98944902

A

G

intergenic

De novo

-

Yuen2017 G

DCBLD2

1-0533-003

chr3:
98549575-98549575

T

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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