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Results for "FOXJ3"

Variant Events: 13

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
FOXJ3     2-1117-003chr1:
42739993-42739993
TCintronicDe novo--Yuen2016 G
Yuen2017 G
FOXJ3     2-1497-003chr1:
42836802-42836802
TCintergenicDe novo--Yuen2017 G
FOXJ3     2-1185-003chr1:
42735125-42735128
CTATCTintronicDe novo--Yuen2017 G
FOXJ3     AU0638302chr1:
42729956-42729956
GCintronicDe novo--Yuen2017 G
FOXJ3     13964.p1chr1:
42679559-42679559
TCintronicDe novo--Turner2016 G
Werling2018 G
FOXJ3     AU1909304chr1:
42843929-42843929
GAintergenicDe novo--Yuen2017 G
FOXJ3     1-0661-003chr1:
42661928-42661928
ACintronicDe novo--Yuen2017 G
FOXJ3     09C85024chr1:
42647625-42647625
GAexonicDe novosynonymous SNVNM_001198852
NM_001198850
NM_014947
NM_001198851
c.C1614T
c.C1716T
c.C1716T
c.C1716T
p.I538I
p.I572I
p.I572I
p.I572I
-8.34E-6DeRubeis2014 E
Kosmicki2017 E
FOXJ3     AU3649304chr1:
42842254-42842254
CTintergenicDe novo--Yuen2017 G
FOXJ3     1-0323-004chr1:
42776423-42776423
GAintronicDe novo--Yuen2017 G
FOXJ3     3-0391-000chr1:
42786926-42786926
CTintronicDe novo--Yuen2017 G
FOXJ3     1-0547-003chr1:
42676235-42676235
TCintronicDe novo--Yuen2017 G
FOXJ3     AU3730301chr1:
42662130-42662130
GAintronicDe 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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