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Results for "RBFOX3"

Variant Events: 27

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     AU046904chr17:
77656752-77656752
AGintergenicDe novo--Yuen2017 G
RBFOX3     2-0242-005chr17:
77333601-77333601
TCintronicDe novo--Yuen2017 G
RBFOX3     1-0751-003 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
RBFOX3     1-0484-003chr17:
77237795-77237795
GAintronicDe novo--Yuen2017 G
RBFOX3     1-0632-003chr17:
77292160-77292160
CGintronicDe novo--Yuen2017 G
RBFOX3     2-1374-003chr17:
77494339-77494339
GAintronicDe novo--Yuen2017 G
RBFOX3     1-0486-003chr17:
77296668-77296668
TCintronicDe novo--Yuen2017 G
RBFOX3     5-0033-004chr17:
77545752-77545752
AAGGAGCCCTGTGGGGintergenicDe novo--Yuen2017 G
RBFOX3     7-0140-003chr17:
77142223-77142223
CAintronicDe novo--Yuen2017 G
RBFOX3     A2chr17:
77376808-77376808
GCintronicDe novo--Wu2018 G
RBFOX3     AU017304chr17:
77311255-77311255
AGintronicDe novo--Yuen2017 G
RBFOX3     1-0604-003chr17:
77275556-77275556
GAintronicDe novo--Yuen2017 G
RBFOX3     1-0656-003chr17:
77185064-77185064
GAintronicDe novo--Yuen2017 G
RBFOX3     2-0318-004chr17:
77166222-77166222
GGGAAGGGAGGAintronicDe novo--Yuen2017 G
RBFOX3     74-0688chr17:
77385960-77385960
CAintronicDe novo--Michaelson2012 G
RBFOX3     11202.p1chr17:
77092706-77092706
ACintronicDe novo--Krumm2015 E
RBFOX3     2-1736-003chr17:
77235657-77235657
GCintronicDe novo--Yuen2017 G
RBFOX3     2-1189-003chr17:
77389546-77389546
CTintronicDe novo--Yuen2017 G
RBFOX3     11202.p1chr17:
77092710-77092710
TCintronicDe novo--Krumm2015 E
RBFOX3     1-0224-004chr17:
77197298-77197298
TCintronicDe novo--Yuen2017 G
RBFOX3     7-0127-003chr17:
77116955-77116955
GAintronicDe novo--Yuen2017 G
RBFOX3     2-1438-003chr17:
77364835-77364835
GCintronicDe novo--Yuen2016 G
Yuen2017 G
RBFOX3     AU3634301chr17:
77313917-77313917
GTintronicDe novo--Yuen2017 G
RBFOX3     14590.p1chr17:
77407684-77407684
CTintronicDe novo--Turner2016 G
RBFOX3     1-0171-005chr17:
77449662-77449662
AGintronicDe novo--Yuen2017 G
RBFOX3     AU031203chr17:
77326676-77326676
TCintronicDe novo--Yuen2017 G
RBFOX3     1-0354-006chr17:
77537460-77537460
TAintergenicDe 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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