Variant Results

or

or

Results for "FOXK2"

Variant Events: 20

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

FOXK2

PN400367

chr17:
80543936-80543936

C

T

exonic

Unknown

nonsynonymous SNV

NM_004514

c.C1436T

p.A479V

28.4

Leblond2019 E

FOXK2

PN400407

chr17:
80477918-80477918

C

T

exonic

Unknown

nonsynonymous SNV

NM_004514

c.C154T

p.R52C

17.89

Leblond2019 E

FOXK2

AU076808

chr17:
80566084-80566084

G

A

intergenic

De novo

-

-

Yuen2017 G

FOXK2

MR_315

chr17:
80544081-80544081

G

GCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC

intronic

De novo

-

-

Satterstrom2020 E

FOXK2

1-0661-003

chr17:
80500308-80500309

CT

CTT

intronic

De novo

-

-

Yuen2017 G

FOXK2

14338.p1

chr17:
80559225-80559225

G

A

exonic

Mosaic

synonymous SNV

NM_004514

c.G1833A

p.S611S

0.468

Dou2017 E
Krupp2017 E

FOXK2

PN400470

chr17:
80477918-80477918

C

T

exonic

Unknown

nonsynonymous SNV

NM_004514

c.C154T

p.R52C

17.89

Leblond2019 E

FOXK2

PN400524

chr17:
80543936-80543936

C

T

exonic

Unknown

nonsynonymous SNV

NM_004514

c.C1436T

p.A479V

28.4

Leblond2019 E

FOXK2

SSC10320

chr17:
80545012-80545012

G

A

exonic

De novo

synonymous SNV

NM_004514

c.G1650A

p.Q550Q

-

-

Lim2017 E

FOXK2

14162.p1

chr17:
80540643-80540643

G

C

exonic

De novo

synonymous SNV

NM_004514

c.G936C

p.L312L

-

Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

FOXK2

14004.p1

chr17:
80545012-80545012

G

A

exonic

De novo

synonymous SNV

NM_004514

c.G1650A

p.Q550Q

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

FOXK2

NDAR_INVRU232AAR_wes1

chr17:
80543909-80543909

C

T

exonic

De novo

nonsynonymous SNV

NM_004514

c.C1409T

p.T470M

22.5

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E

FOXK2

1-0120-003

chr17:
80537335-80537335

T

C

intronic

De novo

-

-

Yuen2017 G

FOXK2

DEASD_0160_001

chr17:
80544976-80544976

G

A

exonic

De novo

synonymous SNV

NM_004514

c.G1614A

p.T538T

-

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E

FOXK2

PN400412

chr17:
80543936-80543936

C

T

exonic

Unknown

nonsynonymous SNV

NM_004514

c.C1436T

p.A479V

28.4

Leblond2019 E

FOXK2

PN400474

chr17:
80477918-80477918

C

T

exonic

Unknown

nonsynonymous SNV

NM_004514

c.C154T

p.R52C

17.89

Leblond2019 E

FOXK2

PN400282

chr17:
80477918-80477918

C

T

exonic

Unknown

nonsynonymous SNV

NM_004514

c.C154T

p.R52C

17.89

Leblond2019 E

FOXK2

7-0255-003

chr17:
80544081-80544082

GC

GCC

intronic

De novo

-

-

Yuen2017 G

FOXK2

PN400393

chr17:
80477918-80477918

C

T

exonic

Unknown

nonsynonymous SNV

NM_004514

c.C154T

p.R52C

17.89

Leblond2019 E

FOXK2

PN400171

chr17:
80477918-80477918

C

T

exonic

Unknown

nonsynonymous SNV

NM_004514

c.C154T

p.R52C

17.89

Leblond2019 E

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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