Variant Results

or

or

Results for "KLF5"

Variant Events: 23

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

KLF5

2-1434-003

chr13:
73815971-73815971

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

KLF5

AU061003

chr13:
73984939-73984939

A

T

intergenic

De novo

-

-

Yuen2017 G

KLF5

1-0126-003

chr13:
73761215-73761215

T

TAC

intergenic

De novo

-

-

Yuen2017 G

KLF5

1-0181-004

chr13:
74007455-74007455

A

G

intergenic

De novo

-

-

Yuen2017 G

KLF5

SP0022669

chr13:
73649881-73649881

G

A

exonic

De novo

nonsynonymous SNV

NM_001286818
NM_001730

c.G958A
c.G1231A

p.D320N
p.D411N

24.6

Feliciano2019 E

KLF5

AU3398301

chr13:
73701055-73701056

AT

A

intergenic

De novo

-

-

Yuen2017 G

KLF5

13324.p1

chr13:
73651604-73651604

A

C

UTR3

De novo

-

-

Turner2016 G

KLF5

2-1368-003

Complex Event; expand row to view variants

De novo

-

-

Yuen2016 G
Yuen2017 G

KLF5

1-0541-003

chr13:
73792487-73792487

C

T

intergenic

De novo

-

-

Yuen2017 G

KLF5

2-0503-003

chr13:
73836370-73836370

A

T

intergenic

De novo

-

-

Yuen2017 G

KLF5

7-0067-003

chr13:
74054896-74054896

T

C

intergenic

De novo

-

-

Yuen2017 G

KLF5

12591.p1

chr13:
73636482-73636482

A

G

exonic

De novo

nonsynonymous SNV

NM_001286818
NM_001730

c.A472G
c.A745G

p.M158V
p.M249V

11.55

Iossifov2014 E
Ji2016 E
Kosmicki2017 E

KLF5

AU4228302

chr13:
73917334-73917334

G

T

intergenic

De novo

-

-

Yuen2017 G

KLF5

AU4032307

chr13:
73765200-73765200

C

T

intergenic

De novo

-

-

Yuen2017 G

KLF5

2-1322-003

chr13:
73770946-73770946

T

A

intergenic

De novo

-

-

Yuen2017 G

KLF5

2-0503-004

chr13:
73836370-73836370

A

T

intergenic

De novo

-

-

Yuen2017 G

KLF5

AU1987301

chr13:
74031972-74031972

G

A

intergenic

De novo

-

-

Yuen2017 G

KLF5

2-1134-003

chr13:
73771963-73771963

C

A

intergenic

De novo

-

-

Yuen2017 G

KLF5

2-1696-003

chr13:
73958759-73958759

C

A

intergenic

De novo

-

-

Yuen2017 G

KLF5

2-1406-003

chr13:
73743557-73743557

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

KLF5

7-0024-003

chr13:
73761219-73761219

T

TATAC

intergenic

De novo

-

-

Yuen2017 G

KLF5

AU3343301

chr13:
73937347-73937347

A

C

intergenic

De novo

-

-

Yuen2017 G

KLF5

AU4215302

chr13:
73843604-73843604

C

T

intergenic

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