Variant Results

or

Results for "CDKAL1"

Variant Events: 51

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

CDKAL1

2-0238-003

chr6:
20987076-20987076

G

A

intronic

De novo

-

Yuen2017 G

CDKAL1

AU073006

chr6:
20744673-20744673

T

A

intronic

De novo

-

Yuen2017 G

CDKAL1

2-1382-003

chr6:
21111218-21111218

T

A

intronic

De novo

-

Yuen2017 G

CDKAL1

2-0264-004

chr6:
20771078-20771078

T

A

intronic

De novo

-

Yuen2017 G

CDKAL1

5-0033-004

chr6:
21269998-21269998

A

G

intergenic

De novo

-

Yuen2017 G

CDKAL1

5-0014-004

chr6:
21353694-21353694

T

TG

intergenic

De novo

-

Yuen2017 G

CDKAL1

5-0017-004

chr6:
20764937-20764937

A

G

intronic

De novo

-

Yuen2017 G

CDKAL1

AU1955302

chr6:
20821488-20821488

C

T

intronic

De novo

-

Yuen2017 G

CDKAL1

AU3839302

chr6:
20914414-20914414

G

A

intronic

De novo

-

Yuen2017 G

CDKAL1

2-1345-003

chr6:
20667396-20667396

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CDKAL1

2-1345-003

chr6:
20800308-20800308

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CDKAL1

AU3724302

chr6:
21086699-21086699

G

T

intronic

De novo

-

Yuen2017 G

CDKAL1

AU1542303

chr6:
21334496-21334496

G

C

intergenic

De novo

-

Yuen2017 G

CDKAL1

1-0395-003

chr6:
21141981-21141981

G

A

intronic

De novo

-

Yuen2017 G

CDKAL1

2-1163-003

chr6:
21474097-21474097

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDKAL1

2-0122-004

chr6:
20657685-20657685

C

T

intronic

De novo

-

Yuen2017 G

CDKAL1

AU3858303

chr6:
21462882-21462882

G

A

intergenic

De novo

-

Yuen2017 G

CDKAL1

AU1848302

chr6:
20833295-20833295

G

C

intronic

De novo

-

Yuen2017 G

CDKAL1

A7

chr6:
21310656-21310656

A

G

intergenic

De novo

-

Wu2018 G

CDKAL1

Cukier2014:7872

chr6:
20546697-20546697

G

A

exonic

Unknown

nonsynonymous SNV

NM_017774

c.G116A

p.R39Q

22.6

0.0054

Cukier2014 E

CDKAL1

1-0248-003

chr6:
20977788-20977788

C

T

intronic

De novo

-

Yuen2017 G

CDKAL1

7-0035-003

chr6:
21344159-21344159

G

A

intergenic

De novo

-

Yuen2017 G

CDKAL1

1-0299-004

chr6:
21353694-21353694

T

TG

intergenic

De novo

-

Yuen2017 G

CDKAL1

2-1408-004

chr6:
20746364-20746364

A

G

intronic

De novo

-

Yuen2017 G

CDKAL1

2-1261-004

chr6:
21090222-21090222

C

CTA

intronic

De novo

-

Yuen2017 G

CDKAL1

2-1480-003

chr6:
20617113-20617114

CT

C

intronic

De novo

-

Yuen2016 G

CDKAL1

5-0088-003

chr6:
20692987-20692987

A

G

intronic

De novo

-

Yuen2017 G

CDKAL1

AU4168306

chr6:
21127913-21127913

G

A

intronic

De novo

-

Yuen2017 G

CDKAL1

2-1166-003

chr6:
21216629-21216629

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CDKAL1

A19

chr6:
20694766-20694766

A

T

intronic

De novo

-

Wu2018 G

CDKAL1

1-0986-003

chr6:
20633841-20633841

A

T

intronic

De novo

-

Yuen2017 G

CDKAL1

1-0226-005

chr6:
21319918-21319918

G

A

intergenic

De novo

-

Yuen2017 G

CDKAL1

2-1562-004

chr6:
21367432-21367432

G

GTA

intergenic

De novo

-

Yuen2017 G

CDKAL1

1-0197-004

chr6:
21353694-21353694

T

TTTTTTTTG

intergenic

De novo

-

Yuen2017 G

CDKAL1

AU060703

chr6:
21193376-21193376

G

C

intronic

De novo

-

Yuen2017 G

CDKAL1

2-0122-003

chr6:
20732952-20732952

G

A

intronic

De novo

-

Yuen2017 G

CDKAL1

5-0046-003

chr6:
20833246-20833246

A

G

intronic

De novo

-

Yuen2017 G

CDKAL1

7-0128-003

chr6:
20768863-20768863

G

A

intronic

De novo

-

Yuen2017 G

CDKAL1

AU1725306

chr6:
21403087-21403087

A

T

intergenic

De novo

-

Yuen2017 G

CDKAL1

13316.p1

chr6:
20844164-20844164

C

A

intronic

De novo

-

Wilfert2021 G

CDKAL1

2-1210-003

chr6:
20844901-20844901

C

T

intronic

De novo

-

Yuen2017 G

CDKAL1

AU056804

chr6:
21184624-21184624

C

T

intronic

De novo

-

Yuen2017 G

CDKAL1

1-0446-003

chr6:
21382990-21382990

A

AG

intergenic

De novo

-

Yuen2017 G

CDKAL1

7-0194-003

chr6:
20601275-20601275

G

T

intronic

De novo

-

Yuen2017 G

CDKAL1

1-0285-003

chr6:
20738833-20738833

G

T

intronic

De novo

-

Yuen2017 G

CDKAL1

1-0395-004

chr6:
21141981-21141981

G

A

intronic

De novo

-

Yuen2017 G

CDKAL1

AU3782303

chr6:
20658703-20658703

T

C

intronic

De novo

-

Yuen2017 G

CDKAL1

AU2485305

chr6:
20764104-20764104

T

G

intronic

De novo

-

Yuen2017 G

CDKAL1

13393.p1

chr6:
21290827-21290827

G

T

intergenic

De novo

-

Turner2016 G

CDKAL1

2-1346-003

chr6:
21412875-21412875

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDKAL1

1-0593-003

chr6:
20824545-20824545

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
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