Variant Results

or

Results for "KLF12"

Variant Events: 46

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

KLF12

2-1619-003

chr13:
74675748-74675752

CTTAT

C

intronic

De novo

-

Yuen2017 G

KLF12

7-0002-003

chr13:
74538405-74538405

A

G

intronic

De novo

-

Yuen2017 G

KLF12

14370.p1

chr13:
74314064-74314064

T

A

intronic

De novo

-

Turner2016 G

KLF12

7-0023-003

chr13:
74584136-74584136

G

A

intronic

De novo

-

Yuen2017 G

KLF12

2-0503-003

chr13:
74868737-74868737

C

CTTG

intergenic

De novo

-

Yuen2017 G

KLF12

2-1502-003

chr13:
74835208-74835208

A

G

intergenic

De novo

-

Yuen2017 G

KLF12

AU008505

chr13:
74633801-74633801

G

A

intronic

De novo

-

Yuen2017 G

KLF12

1-0338-003

chr13:
74844837-74844837

G

A

intergenic

De novo

-

Yuen2017 G

KLF12

1-0936-003

chr13:
74483702-74483702

A

G

intronic

De novo

-

Yuen2017 G

KLF12

AU4239301

chr13:
74648105-74648105

T

C

intronic

De novo

-

Yuen2017 G

KLF12

AU4007301

chr13:
74889181-74889181

C

G

intergenic

De novo

-

Yuen2017 G

KLF12

AU017304

chr13:
74285475-74285475

A

G

intronic

De novo

-

Yuen2017 G

KLF12

1-0566-003

chr13:
74840994-74840994

G

A

intergenic

De novo

-

Yuen2017 G

KLF12

AU2863303

chr13:
74406485-74406485

T

A

intronic

De novo

-

Yuen2017 G

KLF12

1-0215-006

chr13:
74379519-74379519

C

T

intronic

De novo

-

Yuen2017 G

KLF12

2-1239-003

chr13:
74620211-74620211

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KLF12

2-1619-004

chr13:
74675748-74675752

CTTAT

C

intronic

De novo

-

Yuen2017 G

KLF12

13637.p1

chr13:
74383944-74383944

A

C

intronic

De novo

-

Wilfert2021 G

KLF12

2-1514-003

chr13:
74487050-74487065

CCTCTCTCTCTCTCTC

CCTCTCTCTCTCTC

intronic

De novo

-

Yuen2017 G

KLF12

2-0028-003

chr13:
74531211-74531213

AGG

AG

intronic

De novo

-

Yuen2017 G

KLF12

AU3881302

chr13:
74439271-74439271

G

A

intronic

De novo

-

Yuen2017 G

KLF12

2-1430-003

chr13:
74778546-74778546

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KLF12

1-0460-003

chr13:
74666788-74666807

AAAAAAGAAAAAGAAAAAGA

AAAAAAGAAAAAGA

intronic

De novo

-

Yuen2017 G

KLF12

AU2075302

chr13:
74496333-74496333

T

C

intronic

De novo

-

Yuen2017 G

KLF12

7-0008-003

chr13:
74888390-74888390

A

G

intergenic

De novo

-

Yuen2017 G

KLF12

A19

chr13:
74849923-74849923

C

T

intergenic

De novo

-

Wu2018 G

KLF12

5-0015-003

chr13:
74327164-74327164

C

T

intronic

De novo

-

Yuen2017 G

KLF12

2-0238-003

chr13:
74701481-74701481

T

C

intronic

De novo

-

Yuen2017 G

KLF12

A30

chr13:
74697509-74697509

C

A

intronic

De novo

-

Wu2018 G

KLF12

1-0541-003

chr13:
74365291-74365291

A

C

intronic

De novo

-

Yuen2017 G

KLF12

2-0057-003

chr13:
74369651-74369651

G

T

intronic

De novo

-

Yuen2017 G

KLF12

SP0059446

chr13:
74419996-74419996

G

A

exonic

De novo

nonsynonymous SNV

NM_007249

c.C638T

p.P213L

25.6

8.261E-6

Fu2022 E

KLF12

AU4378301

chr13:
74695959-74695959

G

C

intronic

De novo

-

Yuen2017 G

KLF12

1-0636-003

chr13:
74536707-74536707

G

A

intronic

De novo

-

Yuen2017 G

KLF12

3-0392-000

chr13:
74525581-74525581

C

G

intronic

De novo

-

Yuen2016 G

KLF12

SP0056725

chr13:
74419949-74419949

G

C

intronic

De novo

-

Fu2022 E

KLF12

2-0202-003

chr13:
74572467-74572467

T

C

intronic

De novo

-

Yuen2017 G

KLF12

2-0503-004

chr13:
74868737-74868737

C

CTTG

intergenic

De novo

-

Yuen2017 G

KLF12

AU3649305

chr13:
74967888-74967888

A

G

intergenic

De novo

-

Yuen2017 G

KLF12

AU4079301

chr13:
74562773-74562773

T

G

intronic

De novo

-

Yuen2017 G

KLF12

AU018010

chr13:
74514436-74514436

C

A

intronic

De novo

-

Yuen2017 G

KLF12

2-0225-004

chr13:
74420252-74420252

T

C

exonic

De novo

nonsynonymous SNV

NM_007249

c.A382G

p.T128A

13.99

1.653E-5

Yuen2015 G
Yuen2017 G

KLF12

1-0467-003

chr13:
74560105-74560105

C

T

intronic

De novo

-

Yuen2017 G

KLF12

5-0015-004

chr13:
74327164-74327164

C

T

intronic

De novo

-

Yuen2017 G

KLF12

AU3760301

chr13:
74742908-74742908

T

C

intergenic

De novo

-

Yuen2017 G

KLF12

AU4234303

chr13:
74668228-74668228

T

C

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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