Variant Results

or

Results for "RBFOX3"

Variant Events: 45

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

RBFOX3

AU046904

chr17:
77656752-77656752

A

G

intergenic

De novo

-

Yuen2017 G

RBFOX3

SP0047927

chr17:
77093769-77093769

T

G

intronic

De novo

-

Fu2022 E

RBFOX3

SP0023343

chr17:
77099293-77099293

C

T

exonic

De novo

nonsynonymous SNV

NM_001082575

c.G458A

p.R153Q

17.42

-

Fu2022 E
Zhou2022 GE

RBFOX3

2-0242-005

chr17:
77333601-77333601

T

C

intronic

De novo

-

Yuen2017 G

RBFOX3

1-0751-003

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

RBFOX3

1-0484-003

chr17:
77237795-77237795

G

A

intronic

De novo

-

Yuen2017 G

RBFOX3

IBS-ASD-4903-blood-wgs-ILLUMINA

chr17:
77522956-77522956

G

A

intergenic

De novo

-

Kim2024 G

RBFOX3

IBS-ASD-10243-blood-wgs-ILLUMINA

chr17:
77512729-77512729

A

G

upstream

De novo

-

Kim2024 G

RBFOX3

1-0632-003

chr17:
77292160-77292160

C

G

intronic

De novo

-

Yuen2017 G

RBFOX3

2-1374-003

chr17:
77494339-77494339

G

A

intronic

De novo

-

Yuen2017 G

RBFOX3

1-0486-003

chr17:
77296668-77296668

T

C

intronic

De novo

-

Yuen2017 G

RBFOX3

5-0033-004

chr17:
77545752-77545752

A

AGGAGCCCTGTGGGG

intergenic

De novo

-

Yuen2017 G

RBFOX3

7-0140-003

chr17:
77142223-77142223

C

A

intronic

De novo

-

Yuen2017 G

RBFOX3

A2

chr17:
77376808-77376808

G

C

intronic

De novo

-

Wu2018 G

RBFOX3

AU017304

chr17:
77311255-77311255

A

G

intronic

De novo

-

Yuen2017 G

RBFOX3

1-0604-003

chr17:
77275556-77275556

G

A

intronic

De novo

-

Yuen2017 G

RBFOX3

1-0656-003

chr17:
77185064-77185064

G

A

intronic

De novo

-

Yuen2017 G

RBFOX3

2-0318-004

chr17:
77166222-77166222

G

GGAAGGGAGGA

intronic

De novo

-

Yuen2017 G

RBFOX3

74-0688

chr17:
77385960-77385960

C

A

intronic

De novo

-

Michaelson2012 G

RBFOX3

11202.p1

chr17:
77092706-77092706

A

C

intronic

De novo

-

Krumm2015 E

RBFOX3

2-1736-003

chr17:
77235657-77235657

G

C

intronic

De novo

-

Yuen2017 G

RBFOX3

2-1189-003

chr17:
77389546-77389546

C

T

intronic

De novo

-

Yuen2017 G

RBFOX3

11202.p1

chr17:
77092710-77092710

T

C

intronic

De novo

-

Krumm2015 E

RBFOX3

1-0224-004

chr17:
77197298-77197298

T

C

intronic

De novo

-

Yuen2017 G

RBFOX3

7-0127-003

chr17:
77116955-77116955

G

A

intronic

De novo

-

Yuen2017 G

RBFOX3

2-1438-003

chr17:
77364835-77364835

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

RBFOX3

AU3634301

chr17:
77313917-77313917

G

T

intronic

De novo

-

Yuen2017 G

RBFOX3

IBS-ASD-5423-blood-wgs-ILLUMINA

chr17:
77302853-77302853

C

T

intronic

De novo

-

Kim2024 G

RBFOX3

IBS-ASD-18993-blood-wgs-ILLUMINA

chr17:
77295394-77295394

C

T

intronic

De novo

-

Kim2024 G

RBFOX3

IBS-ASD-10353-blood-wgs-ILLUMINA

chr17:
77294497-77294497

G

A

intronic

De novo

-

Kim2024 G

RBFOX3

14590.p1

chr17:
77407684-77407684

C

T

intronic

De novo

-

Turner2016 G

RBFOX3

IBS-ASD-4153-blood-wgs-ILLUMINA

chr17:
77283900-77283900

G

A

intronic

De novo

-

Kim2024 G

RBFOX3

IBS-ASD-10343-blood-wgs-ILLUMINA

chr17:
77269316-77269316

A

AAGCCCCCAGG

intronic

De novo

-

Kim2024 G

RBFOX3

IBS-ASD-29853-blood-wgs-ILLUMINA

chr17:
77085965-77085965

T

C

UTR3

De novo

-

Kim2024 G

RBFOX3

IBS-ASD-17793-blood-wgs-ILLUMINA

chr17:
77504191-77504191

C

T

intronic

De novo

-

Kim2024 G

RBFOX3

IBS-ASD-18603-blood-wgs-ILLUMINA

chr17:
77475107-77475107

G

A

intronic

De novo

-

Kim2024 G

RBFOX3

1-0171-005

chr17:
77449662-77449662

A

G

intronic

De novo

-

Yuen2017 G

RBFOX3

IBS-ASD-18464-blood-wgs-ILLUMINA

chr17:
77473455-77473455

G

A

intronic

De novo

-

Kim2024 G

RBFOX3

AU031203

chr17:
77326676-77326676

T

C

intronic

De novo

-

Yuen2017 G

RBFOX3

IBS-ASD-35103-blood-wgs-ILLUMINA

chr17:
77390643-77390643

G

A

intronic

De novo

-

Kim2024 G

RBFOX3

IBS-ASD-19913-blood-wgs-ILLUMINA

chr17:
77384769-77384769

C

T

intronic

De novo

-

Kim2024 G

RBFOX3

IBS-ASD-17763-blood-wgs-ILLUMINA

chr17:
77378967-77378967

T

C

intronic

De novo

-

Kim2024 G

RBFOX3

IBS-ASD-13223-blood-wgs-ILLUMINA

chr17:
77331763-77331763

C

A

intronic

De novo

-

Kim2024 G

RBFOX3

1-0354-006

chr17:
77537460-77537460

T

A

intergenic

De novo

-

Yuen2017 G

RBFOX3

IBS-ASD-9863-blood-wgs-ILLUMINA

chr17:
77312584-77312584

C

T

intronic

De novo

-

Kim2024 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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