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Results for "RBFOX2"

Variant Events: 19

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     7-0119-003chr22:
36461645-36461645
CTintergenicDe novo--Yuen2017 G
RBFOX2     AU061104chr22:
36346735-36346735
TCintronicDe novo--Yuen2017 G
RBFOX2     5-0021-003chr22:
36455082-36455082
GAintergenicDe novo--Yuen2017 G
RBFOX2     2-1408-004chr22:
36195542-36195542
GAintronicDe novo--Yuen2017 G
RBFOX2     AU038703chr22:
36268516-36268523
CAGAAGAACAGAAintronicDe novo--Yuen2017 G
RBFOX2     AU015903chr22:
36245319-36245380
AACACACACACACACATACACACACAAACACACACACACACACACACACACACACACACACAAACACACACACACATACACACACAAACACACACACACACACACACACACACACACACACAintronicDe novo--Yuen2017 G
RBFOX2     7-0024-003chr22:
36345151-36345153
TTATintronicDe novo--Yuen2017 G
RBFOX2     2-0318-004chr22:
36330744-36330745
CTCintronicDe novo--Yuen2017 G
RBFOX2     AU3905302chr22:
36316133-36316133
TAintronicDe novo--Yuen2017 G
RBFOX2     12354.p1chr22:
36140283-36140283
CTexonicDe novononsynonymous SNVNM_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
RBFOX2     AU4032305chr22:
36460700-36460700
TCintergenicDe novo--Yuen2017 G
RBFOX2     1-0246-004chr22:
36453670-36453670
GAintergenicDe novo--Yuen2017 G
RBFOX2     SSC04169chr22:
36140283-36140283
CTexonicDe novononsynonymous SNVNM_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-Lim2017 E
RBFOX2     1-0526-003chr22:
36295687-36295693
ATCAAAGAintronicDe novo--Yuen2017 G
RBFOX2     2-1709-003chr22:
36528077-36528077
GAintergenicDe novo--Yuen2017 G
RBFOX2     1-0329-004chr22:
36295687-36295693
ATCAAAGAintronicDe novo--Yuen2017 G
RBFOX2     SP0039864chr22:
36206001-36206001
ACexonicDe novosynonymous SNVNM_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
RBFOX2     7-0168-003chr22:
36150436-36150436
CAintronicDe novo--Yuen2017 G
RBFOX2     AU4310301chr22:
36526362-36526362
GAintergenicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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