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Results for "OTUD7A"

Variant Events: 20

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
OTUD7A     11064.p1chr15:
31954589-31954592
ACTTAintergenicDe novo--Werling2018 G
OTUD7A     2-1085-004chr15:
32309598-32309610
TTTGTGTGCATGATintergenicDe novo--Yuen2017 G
OTUD7A     5-0114-003chr15:
31841692-31841692
AGintronicDe novo--Yuen2017 G
OTUD7A     AU2863302chr15:
32114901-32114901
GCintergenicDe novo--Yuen2017 G
OTUD7A     AU3729303chr15:
31922838-31922838
GAintronicDe novo--Yuen2017 G
OTUD7A     1-0554-003chr15:
32060352-32060352
TCintergenicDe novo--Yuen2017 G
OTUD7A     2-1529-003chr15:
32273462-32273464
CAGCintergenicDe novo--Yuen2017 G
OTUD7A     AU079104chr15:
32041139-32041139
GTintergenicDe novo--Yuen2017 G
OTUD7A     2-1085-003chr15:
32309598-32309610
TTTGTGTGCATGATintergenicDe novo--Yuen2017 G
OTUD7A     1-0885-003chr15:
32133627-32133627
GAintergenicDe novo--Yuen2017 G
OTUD7A     1-0300-003chr15:
32296709-32296709
ACintergenicDe novo--Yuen2017 G
OTUD7A     7-0102-003chr15:
31849533-31849533
GAintronicDe novo--Yuen2017 G
OTUD7A     1-0985-003chr15:
31857120-31857120
GAintronicDe novo--Yuen2017 G
OTUD7A     3-0392-000chr15:
32250692-32250692
TAintergenicDe novo--Yuen2016 G
OTUD7A     3-0065-000chr15:
31846622-31846622
TGintronicDe novo--Yuen2017 G
OTUD7A     AU4069302chr15:
32226342-32226342
AGintergenicDe novo--Yuen2017 G
OTUD7A     AU017704chr15:
32148978-32148983
TAAAAATAAAAintergenicDe novo--Yuen2017 G
OTUD7A     12628.p1 Complex Event; expand row to view variants  De novononframeshift deletionNM_130901
NM_130901
NM_130901
c.1473_1481del
c.1466_1474del
c.1474_1482del
p.491_494del
p.489_492del
p.492_494del
-2.214E-5Iossifov2012 E
Iossifov2014 E
Iossifov2014 E
Kosmicki2017 E
Kosmicki2017 E
Satterstrom2020 E
OTUD7A     2-0012-004chr15:
32151697-32151697
TCintergenicDe novo--Yuen2017 G
OTUD7A     AU4079301chr15:
32105082-32105082
GAintergenicDe novo--Yuen2017 G
Source Variant Information

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Paper alias:

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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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