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Results for "OTUD7A"

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
OTUD7A     1-0554-003chr15:
32060352-32060352
TCintergenicDe novo--Trost2022 G
Yuen2017 G
OTUD7A     2-1529-003chr15:
32273462-32273464
CAGCintergenicDe 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     SSC06711chr15:
31776803-31776812
TTCTTGCCGTTexonicDe novononframeshift deletionNM_130901c.1466_1474delp.489_492del--Trost2022 G
OTUD7A     1-0985-003chr15:
31857120-31857120
GAintronicDe novo--Trost2022 G
Yuen2017 G
OTUD7A     2-1820-003chr15:
31847271-31847271
GAintronicDe novo--Trost2022 G
OTUD7A     AU055603chr15:
31870911-31870911
CTintronicDe novo--Trost2022 G
OTUD7A     3-0065-000chr15:
31846622-31846622
TGintronicDe novo--Trost2022 G
Yuen2017 G
OTUD7A     AU4069302chr15:
32226342-32226342
AGintergenicDe novo--Yuen2017 G
OTUD7A     MSSNG00032-004chr15:
31842562-31842562
GAintronicDe novo--Trost2022 G
OTUD7A     REACH000564chr15:
31844860-31844860
CTintronicDe novo--Trost2022 G
OTUD7A     MSSNG00083-003chr15:
31820580-31820580
CGintronicDe novo--Trost2022 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
Zhou2022 GE
OTUD7A     7-0462-004chr15:
31840982-31840982
AGintronicDe novo--Trost2022 G
OTUD7A     MSSNG00169-003chr15:
31792362-31792362
CAintronicDe novo--Trost2022 G
OTUD7A     2-1179-003chr15:
31797779-31797779
CGintronicDe novo--Trost2022 G
OTUD7A     3-0061-000chr15:
32020628-32020628
AGintergenicDe novo--Trost2022 G
OTUD7A     MT_186.4chr15:
32034498-32034498
GAintergenicDe novo--Trost2022 G
OTUD7A     7-0322-003chr15:
31982811-31982811
GAintergenicDe novo--Trost2022 G
OTUD7A     MSSNG00085-003chr15:
32011998-32011998
AGintergenicDe novo--Trost2022 G
OTUD7A     11064.p1chr15:
31954589-31954592
ACTTAintergenicDe novo--Werling2018 G
OTUD7A     1-1008-003chr15:
31903727-31903727
AGintronicDe novo--Trost2022 G
OTUD7A     2-1085-004chr15:
32309598-32309610
TTTGTGTGCATGATintergenicDe novo--Yuen2017 G
OTUD7A     5-0114-003chr15:
31841692-31841692
AGintronicDe novo--Trost2022 G
Yuen2017 G
OTUD7A     AU2863302chr15:
32114901-32114901
GCintergenicDe novo--Yuen2017 G
OTUD7A     AU3729303chr15:
31922838-31922838
GAintronicDe novo--Yuen2017 G
OTUD7A     MSSNG00129-003chr15:
31916997-31916997
ATintronicDe novo--Trost2022 G
OTUD7A     P2M7G_01chr15:
31898920-31898920
TCintronicDe novo--Trost2022 G
OTUD7A     14-591chr15:
31899382-31899382
TCintronicDe novo--Trost2022 G
OTUD7A     AU079104chr15:
32041139-32041139
GTintergenicDe novo--Trost2022 G
Yuen2017 G
OTUD7A     AU2653301chr15:
32140049-32140049
CAintergenicDe novo--Trost2022 G
OTUD7A     MSSNG00384-003chr15:
32158693-32158696
TGAATintergenicDe novo--Trost2022 G
OTUD7A     MSSNG00357-004chr15:
32063558-32063558
CAintergenicDe novo--Trost2022 G
OTUD7A     MSSNG00357-004chr15:
32065942-32065942
GCintergenicDe novo--Trost2022 G
OTUD7A     REACH000627chr15:
32035803-32035803
GAintergenicDe novo--Trost2022 G
OTUD7A     AU055603chr15:
32053547-32053547
CGintergenicDe novo--Trost2022 G
OTUD7A     7-0102-003chr15:
31849533-31849533
GAintronicDe novo--Trost2022 G
Yuen2017 G
OTUD7A     3-0392-000chr15:
32250692-32250692
TAintergenicDe novo--Yuen2016 G
OTUD7A     AU017704 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
OTUD7A     2-0012-004chr15:
32151697-32151697
TCintergenicDe novo--Yuen2017 G
OTUD7A     AU4079301chr15:
32105082-32105082
GAintergenicDe novo--Trost2022 G
Yuen2017 G
OTUD7A     EGAN00001101277chr15:
31941998-31941998
ATintronicDe novo--Fu2022 E
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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