Variant Results

or

or

Results for "FOXN3"

Variant Events: 29

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

FOXN3

1-0119-004

chr14:
90160963-90160963

A

AAAT

intergenic

De novo

-

-

Yuen2017 G

FOXN3

AU3875301

chr14:
89662140-89662140

G

C

intronic

De novo

-

-

Yuen2017 G

FOXN3

Codina-Sola2015:ASD_34

chr14:
89629085-89629094

CCCCTCGCTG

C

exonic

Maternal

nonframeshift deletion

NM_005197
NM_001085471

c.1071_1079del
c.1137_1145del

p.357_360del
p.379_382del

-

Codina-Sola2015 E

FOXN3

2-1317-003

chr14:
90107639-90107639

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

FOXN3

2-1266-003

chr14:
90123812-90123812

T

G

intergenic

De novo

-

-

Yuen2017 G

FOXN3

2-1189-003

chr14:
89652312-89652312

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

FOXN3

2-1360-003

chr14:
89982228-89982228

G

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

FOXN3

1-0991-003

chr14:
89756053-89756053

G

A

intronic

De novo

-

-

Yuen2017 G

FOXN3

2-1486-003

chr14:
90070380-90070380

T

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

FOXN3

AU011704

chr14:
89853770-89853770

A

C

intronic

De novo

-

-

Yuen2017 G

FOXN3

2-1338-003

chr14:
89742858-89742858

G

A

intronic

De novo

-

-

Yuen2017 G

FOXN3

2-1452-003

chr14:
90117669-90117686

CCTCTCTCTCTCTCTCTC

CCTCTCTCTCTCTCTC

intergenic

De novo

-

-

Yuen2017 G

FOXN3

11938.p1

chr14:
89951874-89951874

G

GGTGTGTGAGAGTAGAGTAAATAATCA

intronic

Maternal

-

-

Wilfert2021 G

FOXN3

11341.p1

chr14:
89880608-89880608

T

A

intronic

De novo

-

-

Turner2016 G

FOXN3

A15

chr14:
89954769-89954769

C

T

intronic

De novo

-

-

Wu2018 G

FOXN3

AU021204

chr14:
89860827-89860827

G

A

intronic

De novo

-

-

Yuen2017 G

FOXN3

AU3806304

chr14:
90091727-90091727

G

A

intergenic

De novo

-

-

Yuen2017 G

FOXN3

74-0117

chr14:
89853770-89853770

A

C

intronic

De novo

-

-

Michaelson2012 G

FOXN3

AU3051302

chr14:
90010420-90010420

T

A

intronic

De novo

-

-

Yuen2017 G

FOXN3

AU4159301

chr14:
89780181-89780181

A

G

intronic

De novo

-

-

Yuen2017 G

FOXN3

AU3051302

chr14:
90010450-90010450

T

G

intronic

De novo

-

-

Yuen2017 G

FOXN3

7-0254-004

chr14:
90013056-90013056

T

A

intronic

De novo

-

-

Yuen2017 G

FOXN3

1-0488-003

chr14:
89694201-89694201

C

T

intronic

De novo

-

-

Yuen2017 G

FOXN3

3-0392-000

chr14:
89942390-89942390

C

T

intronic

De novo

-

-

Yuen2016 G

FOXN3

AU3903301

chr14:
89770388-89770388

T

G

intronic

De novo

-

-

Yuen2017 G

FOXN3

1-0559-004

chr14:
90030358-90030358

T

TA

intronic

De novo

-

-

Yuen2017 G

FOXN3

1-0049-004

chr14:
89726798-89726803

CTTCTT

C

intronic

De novo

-

-

Yuen2017 G

FOXN3

AU054303

chr14:
89966217-89966217

T

C

intronic

De novo

-

-

Yuen2017 G

FOXN3

1-0973-003

chr14:
89925336-89925336

C

T

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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