Variant Results

or

Results for "CDK14"

Variant Events: 59

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

CDK14

AU2292302

chr7:
90446901-90446920

TTTTGTTTGTTTGTTTGTTT

TTTTGTTTGTTTGTTT

intronic

De novo

-

Yuen2017 G

CDK14

1-0978-003

chr7:
90734734-90734734

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

AU4306302

chr7:
90666741-90666741

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

1-0835-003

chr7:
90547013-90547013

C

T

exonic

De novo

nonsynonymous SNV

NM_001287137
NM_001287136
NM_012395
NM_001287135

c.C413T
c.C662T
c.C746T
c.C800T

p.T138M
p.T221M
p.T249M
p.T267M

16.97

8.24E-6

Trost2022 G
Yuen2017 G
Zhou2022 GE

CDK14

2-1577-003

chr7:
90804950-90804950

C

T

intronic

De novo

-

Yuen2017 G

CDK14

A13

chr7:
90446282-90446282

G

A

intronic

De novo

-

Wu2018 G

CDK14

AU3713302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

CDK14

1-0625-003

chr7:
90369158-90369158

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

AU011021

chr7:
90533231-90533231

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

AU4027306

chr7:
90538150-90538150

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

MSSNG00252-003

chr7:
90264538-90264538

C

A

intronic

De novo

-

Trost2022 G

CDK14

1-0246-004

chr7:
90402396-90402396

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

MSSNG00169-003

chr7:
90322814-90322814

T

C

intronic

De novo

-

Trost2022 G

CDK14

2-0012-004

chr7:
90573783-90573783

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

1-0522-003

chr7:
90250985-90250985

G

T

intronic

De novo

-

Trost2022 G

CDK14

1032

chr7:
90257619-90257619

C

T

intronic

De novo

-

Trost2022 G

CDK14

1-0901-003

chr7:
90458933-90458933

G

A

intronic

De novo

-

Trost2022 G

CDK14

7-0347-003

chr7:
90552289-90552289

T

C

intronic

De novo

-

Trost2022 G

CDK14

AU3912301

chr7:
90490580-90490580

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

MSSNG00383-003

chr7:
90445348-90445348

A

G

intronic

De novo

-

Trost2022 G

CDK14

1-1169-003

chr7:
90458336-90458336

C

A

intronic

De novo

-

Trost2022 G

CDK14

1-0760-004

chr7:
90411641-90411641

T

C

intronic

De novo

-

Trost2022 G

CDK14

2-1243-003

chr7:
90433004-90433004

A

G

intronic

De novo

-

Trost2022 G

CDK14

MSSNG00103-004

chr7:
90347215-90347215

C

T

intronic

De novo

-

Trost2022 G

CDK14

REACH000443

chr7:
90364560-90364560

G

T

intronic

De novo

-

Trost2022 G

CDK14

REACH000671

chr7:
90758658-90758658

G

A

intronic

De novo

-

Trost2022 G

CDK14

2-1106-004

chr7:
90838548-90838548

G

C

UTR3

De novo

-

Trost2022 G

CDK14

2-1464-003

chr7:
90679066-90679066

T

C

intronic

De novo

-

Trost2022 G

CDK14

MSSNG00019-004A

chr7:
90706857-90706857

T

C

intronic

De novo

-

Trost2022 G

CDK14

5-5146-004

chr7:
90631447-90631447

A

G

intronic

De novo

-

Trost2022 G

CDK14

1-1111-003

chr7:
90650324-90650324

T

C

intronic

De novo

-

Trost2022 G

CDK14

2-1391-003

chr7:
90460407-90460407

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

MSSNG00388-003

chr7:
90586664-90586664

C

T

intronic

De novo

-

Trost2022 G

CDK14

REACH000145

chr7:
90610993-90610993

G

A

intronic

De novo

-

Trost2022 G

CDK14

14482.p1

chr7:
90460836-90460836

T

C

intronic

De novo

-

Turner2016 G

CDK14

1-0494-003A

chr7:
90231224-90231224

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

2-1486-003

chr7:
90512276-90512276

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CDK14

AU2292301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

CDK14

2-1382-003

chr7:
90722566-90722566

A

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CDK14

1-0570-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

CDK14

1-0494-003

chr7:
90231224-90231224

G

A

intronic

De novo

-

Yuen2017 G

CDK14

5-0046-003

chr7:
90873652-90873652

G

A

intergenic

De novo

-

Yuen2017 G

CDK14

5-0146-003

chr7:
90719520-90719520

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

2-1454-003

chr7:
90393703-90393703

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

7-0055-003

chr7:
90343218-90343218

C

A

intronic

De novo

-

Yuen2017 G

CDK14

AU3900302

chr7:
90568125-90568125

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

1-0555-003

chr7:
90376590-90376590

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

AU2427301

chr7:
90314152-90314152

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

AU4103301

chr7:
90497103-90497103

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

AU1725306

chr7:
90669741-90669741

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

AU4231301

chr7:
90284043-90284043

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

2-1421-003

chr7:
90423865-90423865

C

A

intronic

De novo

-

Yuen2017 G

CDK14

5-0077-003

chr7:
90353910-90353910

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDK14

3-0431-000

chr7:
90355990-90355990

G

A

exonic

De novo

nonsynonymous SNV

NM_001287136
NM_012395
NM_001287135

c.G95A
c.G179A
c.G233A

p.S32N
p.S60N
p.S78N

17.12

-

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

CDK14

7-0148-003

chr7:
90888232-90888232

A

G

intergenic

De novo

-

Yuen2017 G

CDK14

DEASD_1098_001

chr7:
90356106-90356106

C

G

exonic

De novo

nonsynonymous SNV

NM_001287136
NM_012395
NM_001287135

c.C211G
c.C295G
c.C349G

p.R71G
p.R99G
p.R117G

14.78

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CDK14

2-1245-003

chr7:
90710892-90710892

T

C

intronic

De novo

-

Yuen2017 G

CDK14

3-0431-000

chr7:
90516152-90516152

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CDK14

AU3847302

chr7:
90667374-90667374

C

T

intronic

De novo

-

Trost2022 G
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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