Variant Results

or

Results for "RBFOX2"

Variant Events: 44

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

RBFOX2

5-0021-003

chr22:
36455082-36455082

G

A

intergenic

De novo

-

Yuen2017 G

RBFOX2

AU038703

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

RBFOX2

SP0062617

chr22:
36205831-36205831

A

C

exonic

De novo

nonsynonymous SNV

NM_001031695
NM_001082576
NM_001082577
NM_014309
NM_001082578
NM_001082579

c.T248G
c.T248G
c.T248G
c.T248G
c.T458G
c.T458G

p.L83R
p.L83R
p.L83R
p.L83R
p.L153R
p.L153R

12.72

-

Fu2022 E

RBFOX2

7-0024-003

chr22:
36345151-36345153

TTA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RBFOX2

AU3905302

chr22:
36316133-36316133

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RBFOX2

12354.p1

chr22:
36140283-36140283

C

T

exonic

De novo

nonsynonymous SNV

NM_001082577
NM_014309
NM_001031695
NM_001082576
NM_001082578
NM_001082579

c.G1072A
c.G1063A
c.G1112A
c.G1100A
c.G1325A
c.G1322A

p.E358K
p.E355K
p.R371Q
p.R367Q
p.R442Q
p.R441Q

24.8

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

RBFOX2

4-0014-003

chr22:
36137500-36137500

G

C

UTR3

De novo

-

Trost2022 G

RBFOX2

1-0246-004

chr22:
36453670-36453670

G

A

intergenic

De novo

-

Yuen2017 G

RBFOX2

2-1709-003

chr22:
36528077-36528077

G

A

intergenic

De novo

-

Yuen2017 G

RBFOX2

1-0329-004

chr22:
36295687-36295693

ATCAAAG

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RBFOX2

4-0046-004

chr22:
36236761-36236761

G

A

intronic

De novo

-

Trost2022 G

RBFOX2

SP0021304

chr22:
36236344-36236344

T

A

UTR5

De novo

-

Trost2022 G

RBFOX2

4-0061-003

chr22:
36219097-36219100

ACCT

A

intronic

De novo

-

Trost2022 G

RBFOX2

2-1391-003

chr22:
36213124-36213128

AGAGG

TGCCACCCA

intronic

De novo

-

Trost2022 G

RBFOX2

MSSNG00341-004

chr22:
36212302-36212307

TTTTTG

T

intronic

De novo

-

Trost2022 G

RBFOX2

MSSNG00033-003

chr22:
36199510-36199510

C

A

intronic

De novo

-

Trost2022 G

RBFOX2

4-0064-004

chr22:
36158822-36158822

G

A

intronic

De novo

-

Trost2022 G

RBFOX2

7-0168-003

chr22:
36150436-36150436

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RBFOX2

AU4310301

chr22:
36526362-36526362

G

A

intergenic

De novo

-

Yuen2017 G

RBFOX2

4-0014-003

chr22:
36137610-36137610

G

A

UTR3

De novo

-

Trost2022 G

RBFOX2

MSSNG00018-003

chr22:
36328253-36328253

G

A

intronic

De novo

-

Trost2022 G

RBFOX2

7-0119-003

chr22:
36461645-36461645

C

T

intergenic

De novo

-

Yuen2017 G

RBFOX2

AU061104

chr22:
36346735-36346735

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RBFOX2

1-1149-003

chr22:
36307295-36307295

A

C

intronic

De novo

-

Trost2022 G

RBFOX2

7-0235-003

chr22:
36283051-36283051

G

A

intronic

De novo

-

Trost2022 G

RBFOX2

2-1408-004

chr22:
36195542-36195542

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RBFOX2

MSSNG00435-003

chr22:
36278302-36278302

C

T

intronic

De novo

-

Trost2022 G

RBFOX2

AU015903

chr22:
36245319-36245380

AACACACACACACACATACACACACAAACACACACACACACACACACACACACACACACACA

AACACACACACACATACACACACAAACACACACACACACACACACACACACACACACACA

intronic

De novo

-

Yuen2017 G

RBFOX2

4-0062-003

chr22:
36271815-36271816

CC

AG

intronic

De novo

-

Trost2022 G

RBFOX2

1014

chr22:
36268384-36268384

T

G

intronic

De novo

-

Trost2022 G

RBFOX2

AU2328301

chr22:
36262903-36262903

C

T

intronic

De novo

-

Trost2022 G

RBFOX2

1-0960-003

chr22:
36257047-36257047

G

A

intronic

De novo

-

Trost2022 G

RBFOX2

2-0318-004

chr22:
36330744-36330745

CT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RBFOX2

MSSNG00258-005

chr22:
36396056-36396056

T

A

intronic

De novo

-

Trost2022 G

RBFOX2

7-0438-003

chr22:
36394282-36394282

C

G

intronic

De novo

-

Trost2022 G

RBFOX2

MSSNG00111-004

chr22:
36386893-36386893

C

T

intronic

De novo

-

Trost2022 G

RBFOX2

MSSNG00361-003

chr22:
36377967-36377967

G

C

intronic

De novo

-

Trost2022 G

RBFOX2

1-1055-003

chr22:
36345567-36345567

C

T

intronic

De novo

-

Trost2022 G

RBFOX2

AU4032305

chr22:
36460700-36460700

T

C

intergenic

De novo

-

Yuen2017 G

RBFOX2

5-0097-003

chr22:
36334438-36334438

A

G

intronic

De novo

-

Trost2022 G

RBFOX2

Wang2023:434

chr22:
36424374-36424374

C

A

exonic

De novo

stopgain

NM_001082578
NM_001082579

c.G100T
c.G100T

p.G34X
p.G34X

37.0

-

Wang2023 E

RBFOX2

SSC04169

chr22:
36140283-36140283

C

T

exonic

De novo

nonsynonymous SNV

NM_001082577
NM_014309
NM_001031695
NM_001082576
NM_001082578
NM_001082579

c.G1072A
c.G1063A
c.G1112A
c.G1100A
c.G1325A
c.G1322A

p.E358K
p.E355K
p.R371Q
p.R367Q
p.R442Q
p.R441Q

24.8

-

Fu2022 E
Lim2017 E
Trost2022 G

RBFOX2

1-0526-003

chr22:
36295687-36295693

ATCAAAG

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RBFOX2

SP0039864

chr22:
36206001-36206001

A

C

exonic

De novo

synonymous SNV

NM_001031695
NM_001082576
NM_001082577
NM_014309
NM_001082578
NM_001082579

c.T78G
c.T78G
c.T78G
c.T78G
c.T288G
c.T288G

p.T26T
p.T26T
p.T26T
p.T26T
p.T96T
p.T96T

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

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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