Variant Results

or

Results for "FOXL1"

Variant Events: 38

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

FOXL1

AU2950301

chr16:
87000136-87000136

C

A

intergenic

De novo

-

Yuen2017 G

FOXL1

1-0380-003

chr16:
86794108-86794108

C

G

intergenic

De novo

-

Yuen2017 G

FOXL1

AU1687302

chr16:
86660290-86660290

C

T

intergenic

De novo

-

Yuen2017 G

FOXL1

1-0025-006

chr16:
86906439-86906439

T

C

intergenic

De novo

-

Yuen2017 G

FOXL1

1-0627-007

chr16:
86797396-86797405

CTCAGTCAGT

CTCAGT

intergenic

De novo

-

Yuen2017 G

FOXL1

2-1644-004

chr16:
86880933-86880933

A

G

intergenic

De novo

-

Yuen2017 G

FOXL1

1-0259-005

chr16:
86798431-86798431

A

G

intergenic

De novo

-

Yuen2017 G

FOXL1

AU3955303

chr16:
86930749-86930750

CT

C

intergenic

De novo

-

Yuen2017 G

FOXL1

AU1933301

chr16:
87017360-87017360

G

T

intergenic

De novo

-

Yuen2017 G

FOXL1

1-0715-003

chr16:
87076622-87076622

G

C

intergenic

De novo

-

Yuen2017 G

FOXL1

7-0103-003

chr16:
86807425-86807425

A

G

intergenic

De novo

-

Yuen2017 G

FOXL1

2-1690-003

chr16:
87073074-87073079

GCCATC

GCCATCCATC

intergenic

De novo

-

Yuen2017 G

FOXL1

AU4154303

chr16:
86931660-86931660

C

G

intergenic

De novo

-

Yuen2017 G

FOXL1

DEASD_1020_001

chr16:
86612801-86612801

C

T

exonic

De novo

nonsynonymous SNV

NM_005250

c.C472T

p.R158C

2.49

-

Fu2022 E
Satterstrom2020 E

FOXL1

AU060004

chr16:
86743328-86743328

C

A

intergenic

De novo

-

Yuen2017 G

FOXL1

AU3610302

chr16:
86778582-86778582

G

C

intergenic

De novo

-

Yuen2017 G

FOXL1

AU1687303

chr16:
86660290-86660290

C

T

intergenic

De novo

-

Yuen2017 G

FOXL1

SP0055021

chr16:
86613354-86613354

T

C

exonic

De novo

nonsynonymous SNV

NM_005250

c.T1025C

p.L342P

12.73

-

Fu2022 E

FOXL1

1-0526-003

chr16:
86639470-86639470

C

T

intergenic

De novo

-

Yuen2017 G

FOXL1

2-1116-003

chr16:
87023420-87023420

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FOXL1

2-1212-003

chr16:
86688698-86688698

A

T

intergenic

De novo

-

Yuen2017 G

FOXL1

2-1702-003

chr16:
86900273-86900273

C

T

intergenic

De novo

-

Yuen2017 G

FOXL1

13539.p1

chr16:
86947876-86947876

C

G

intergenic

De novo

-

Turner2016 G

FOXL1

13874.p1

chr16:
87041782-87041782

G

A

intergenic

De novo

-

Turner2016 G

FOXL1

AU3692302

chr16:
86789779-86789779

C

T

intergenic

De novo

-

Yuen2017 G

FOXL1

13649.p1

chr16:
86647311-86647311

T

A

intergenic

De novo

-

Turner2016 G

FOXL1

12011.p1

chr16:
86808990-86808990

A

T

intergenic

De novo

-

Turner2016 G

FOXL1

2-0003-003

chr16:
87086711-87086711

A

G

intergenic

De novo

-

Yuen2017 G

FOXL1

A16

chr16:
87052892-87052892

G

A

intergenic

De novo

-

Wu2018 G

FOXL1

1-0402-004

chr16:
86835406-86835406

T

C

intergenic

De novo

-

Yuen2017 G

FOXL1

2-0319-004

chr16:
86959582-86959582

C

CTCTGCCA

intergenic

De novo

-

Yuen2017 G

FOXL1

AU3918301

chr16:
86653471-86653471

C

G

intergenic

De novo

-

Yuen2017 G

FOXL1

1-0354-006

chr16:
87061918-87061918

G

T

intergenic

De novo

-

Yuen2017 G

FOXL1

7-0044-003

chr16:
86950443-86950443

G

C

intergenic

De novo

-

Yuen2017 G

FOXL1

7-0044-003

chr16:
86965698-86965698

G

C

intergenic

De novo

-

Yuen2017 G

FOXL1

F10312-1

chr16:
86612462-86612462

G

A

exonic

De novo

nonsynonymous SNV

NM_005250

c.G133A

p.E45K

12.87

-

Fu2022 E
Satterstrom2020 E

FOXL1

1-0990-003

chr16:
87052769-87052769

G

A

intergenic

De novo

-

Yuen2017 G

FOXL1

1-0043-003

chr16:
86996962-86996962

C

G

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
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