Variant Results

or

or

Results for "DCDC1"

Variant Events: 27

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

DCDC1

SP0067264

chr11:
30915869-30915870

CG

C

exonic

De novo

frameshift deletion

NM_020869

c.2139delC

p.P713fs

-

-

Fu2022 E

DCDC1

iHART1029

chr11:
31099414-31099414

T

A

intergenic

Maternal

-

-

Ruzzo2019 G

DCDC1

AU057503

chr11:
31045381-31045381

T

C

intergenic

De novo

-

-

Yuen2017 G

DCDC1

iHART2265

chr11:
30900177-30900177

A

AC

exonic

Paternal

frameshift insertion

NM_020869

c.2626dupG

p.V876fs

-

-

Ruzzo2019 G

DCDC1

2-1292-004

chr11:
31235070-31235070

C

A

intergenic

De novo

-

-

Yuen2017 G

DCDC1

AU3913303

chr11:
31184436-31184436

T

G

intergenic

De novo

-

-

Yuen2017 G

DCDC1

1-0494-003A

chr11:
30887910-30887910

A

G

intronic

De novo

-

-

Yuen2017 G

DCDC1

2-0297-003

chr11:
31028598-31028598

G

T

intergenic

De novo

-

-

Yuen2017 G

DCDC1

1-0479-006

chr11:
31197485-31197485

A

C

intergenic

De novo

-

-

Yuen2017 G

DCDC1

AU4079302

chr11:
31234870-31234870

A

G

intergenic

De novo

-

-

Yuen2017 G

DCDC1

AU4079302

chr11:
31234986-31234986

C

G

intergenic

De novo

-

-

Yuen2017 G

DCDC1

AU4079302

chr11:
31342947-31342947

T

G

intronic

De novo

-

-

Yuen2017 G

DCDC1

14642.p1

chr11:
31331854-31331854

G

T

intronic

De novo

-

-

Turner2016 G

DCDC1

2-1429-003

chr11:
31175104-31175104

C

A

intergenic

De novo

-

-

Yuen2017 G

DCDC1

11572.p1

chr11:
30925196-30925196

G

A

exonic

De novo

nonsynonymous SNV

NM_020869

c.C1664T

p.A555V

9.726

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Turner2016 G

DCDC1

2-0007-003

chr11:
31068599-31068599

C

G

intergenic

De novo

-

-

Yuen2017 G

DCDC1

2-0238-003

chr11:
31066197-31066197

G

A

intergenic

De novo

-

-

Yuen2017 G

DCDC1

AU2123301

chr11:
31180007-31180007

T

C

intergenic

De novo

-

-

Yuen2017 G

DCDC1

1-0494-003

chr11:
30887910-30887910

A

G

intronic

De novo

-

-

Yuen2017 G

DCDC1

2-1384-003

chr11:
31356963-31356963

C

T

intronic

De novo

-

-

Yuen2017 G

DCDC1

11729.p1

chr11:
31302563-31302563

G

T

intronic

De novo

-

-

Wilfert2021 G

DCDC1

1-0208-003

chr11:
31010765-31010765

G

C

intronic

De novo

-

-

Yuen2017 G

DCDC1

AU3997301

chr11:
31243678-31243678

C

T

intergenic

De novo

-

-

Yuen2017 G

DCDC1

1-0546-003

chr11:
31022395-31022395

A

T

intergenic

De novo

-

-

Yuen2017 G

DCDC1

AU4473301

chr11:
31230484-31230484

T

C

intergenic

De novo

-

-

Yuen2017 G

DCDC1

1-0582-003

chr11:
31381092-31381092

T

A

intronic

De novo

-

-

Yuen2017 G

DCDC1

2-1645-003

chr11:
30994743-30994743

G

A

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
	More