Variant Results

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Results for "KLF6"

Variant Events: 18

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

KLF6

AU3692302

chr10:
3928471-3928471

C

T

intergenic

De novo

-

-

Yuen2017 G

KLF6

2-1521-003

chr10:
3950845-3950845

T

C

intergenic

De novo

-

-

Yuen2017 G

KLF6

2-1522-003

chr10:
3870015-3870016

GA

G

intergenic

De novo

-

-

Yuen2017 G

KLF6

AU4056302

chr10:
3827582-3827582

C

T

upstream

De novo

-

-

Yuen2017 G

KLF6

SP0142234

chr10:
3821759-3821759

A

C

exonic

nonsynonymous SNV

NM_001160125
NM_001160124
NM_001300

c.T700G
c.T698G
c.T824G

p.W234G
p.L233R
p.L275R

20.8

-

Antaki2022 GE
Zhou2022 GE

KLF6

13825.p1

chr10:
3941894-3941894

A

C

intergenic

De novo

-

-

Wilfert2021 G

KLF6

AU047703

chr10:
3868527-3868527

C

A

intergenic

De novo

-

-

Yuen2017 G

KLF6

SP0086995

chr10:
3823740-3823740

A

C

intronic

De novo

0.67

-

Fu2022 E
Trost2022 G
Zhou2022 GE

KLF6

AU0146302

chr10:
4012399-4012399

C

T

intergenic

De novo

-

-

Yuen2017 G

KLF6

3-0436-000

chr10:
3854337-3854337

T

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

KLF6

5-0030-003

chr10:
3889275-3889275

C

CACAT

intergenic

De novo

-

-

Yuen2017 G

KLF6

1-0300-003

chr10:
3974345-3974345

C

T

intergenic

De novo

-

-

Yuen2017 G

KLF6

AU034904

chr10:
3990129-3990129

T

C

intergenic

De novo

-

-

Yuen2017 G

KLF6

11089.p1

chr10:
3902492-3902492

T

C

intergenic

De novo

-

-

Turner2016 G

KLF6

2-1183-003

chr10:
3948096-3948096

A

C

intergenic

De novo

-

-

Yuen2017 G

KLF6

AU054103

chr10:
3980971-3980971

A

G

intergenic

De novo

-

-

Yuen2017 G

KLF6

AU4056302

chr10:
3819594-3819594

C

G

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

KLF6

AU4056302

chr10:
3823362-3823362

G

A

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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