Variant Results

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Results for "DCDC2"

Variant Events: 24

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

DCDC2

72-1397

chr6:
24178621-24178621

A

T

exonic

Inherited

nonsynonymous SNV

NM_016356
NM_001195610

c.T1263A
c.T1263A

p.N421K
p.N421K

12.58

Patowary2019 E

DCDC2

SP0142234

chr6:
24178660-24178660

G

A

exonic

De novo

synonymous SNV

NM_016356
NM_001195610

c.C1224T
c.C1224T

p.T408T
p.T408T

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DCDC2

SP0032790

chr6:
24278295-24278295

C

A

exonic

De novo

stopgain

NM_016356
NM_001195610

c.G904T
c.G904T

p.E302X
p.E302X

37.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DCDC2

mAGRE4070

chr6:
24302195-24302195

C

A

splicing

Paternal

splicing

25.8

-

Cirnigliaro2023 G

DCDC2

ASC_140196

chr6:
24178719-24178719

C

T

exonic

De novo

nonsynonymous SNV

NM_016356
NM_001195610

c.G1165A
c.G1165A

p.E389K
p.E389K

10.34

Fu2022 E

DCDC2

7-0253-003

chr6:
24326583-24326590

ACCCCCCC

ACCCCCCCC

intronic

De novo

-

-

Yuen2017 G

DCDC2

AU065807

chr6:
24373437-24373437

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DCDC2

2-1441-003

chr6:
24201659-24201659

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DCDC2

12011.p1

chr6:
24276159-24276159

A

G

intronic

De novo

-

-

Turner2016 G

DCDC2

AU3646301

chr6:
24285437-24285437

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DCDC2

2-0043-003

chr6:
24296109-24296109

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DCDC2

1-0112-004

chr6:
24352056-24352056

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DCDC2

EGAN00001101334

chr6:
24178760-24178760

T

A

exonic

De novo

nonsynonymous SNV

NM_016356
NM_001195610

c.A1124T
c.A1124T

p.E375V
p.E375V

14.9

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DCDC2

2-1254-003

chr6:
24337860-24337860

A

C

intronic

De novo

-

-

Yuen2016 G

DCDC2

6-0476-003

chr6:
24316371-24316371

C

G

intronic

De novo

-

-

Trost2022 G

DCDC2

REACH000731

chr6:
24375717-24375717

G

GTA

intronic

De novo

-

-

Trost2022 G

DCDC2

AU1308303

chr6:
24183750-24183750

G

A

intronic

De novo

-

-

Yuen2017 G

DCDC2

MSSNG00419-003

chr6:
24222565-24222565

T

C

intronic

De novo

-

-

Trost2022 G

DCDC2

AU2283301

chr6:
24232399-24232399

A

G

intronic

De novo

-

-

Trost2022 G

DCDC2

J4K7A_01

chr6:
24216000-24216000

G

A

intronic

De novo

-

-

Trost2022 G

DCDC2

3-0612-000

chr6:
24221904-24221904

T

A

intronic

De novo

-

-

Trost2022 G

DCDC2

MSSNG00385-003

chr6:
24173853-24173853

T

C

UTR3

De novo

-

-

Trost2022 G

DCDC2

2-1425-003

chr6:
24209303-24209303

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DCDC2

1-1116-003

chr6:
24193248-24193248

A

G

intronic

De novo

-

-

Trost2022 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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