Variant Results

or

or

Results for "OTUD7A"

Variant Events: 21

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.p1

chr15:
31954589-31954592

ACTT

A

intergenic

De novo

-

-

Werling2018 G

OTUD7A

2-1085-004

chr15:
32309598-32309610

TTTGTGTGCATGA

T

intergenic

De novo

-

-

Yuen2017 G

OTUD7A

5-0114-003

chr15:
31841692-31841692

A

G

intronic

De novo

-

-

Yuen2017 G

OTUD7A

AU2863302

chr15:
32114901-32114901

G

C

intergenic

De novo

-

-

Yuen2017 G

OTUD7A

AU3729303

chr15:
31922838-31922838

G

A

intronic

De novo

-

-

Yuen2017 G

OTUD7A

1-0554-003

chr15:
32060352-32060352

T

C

intergenic

De novo

-

-

Yuen2017 G

OTUD7A

2-1529-003

chr15:
32273462-32273464

CAG

C

intergenic

De novo

-

-

Yuen2017 G

OTUD7A

AU079104

chr15:
32041139-32041139

G

T

intergenic

De novo

-

-

Yuen2017 G

OTUD7A

2-1085-003

chr15:
32309598-32309610

TTTGTGTGCATGA

T

intergenic

De novo

-

-

Yuen2017 G

OTUD7A

1-0885-003

chr15:
32133627-32133627

G

A

intergenic

De novo

-

-

Yuen2017 G

OTUD7A

1-0300-003

chr15:
32296709-32296709

A

C

intergenic

De novo

-

-

Yuen2017 G

OTUD7A

7-0102-003

chr15:
31849533-31849533

G

A

intronic

De novo

-

-

Yuen2017 G

OTUD7A

1-0985-003

chr15:
31857120-31857120

G

A

intronic

De novo

-

-

Yuen2017 G

OTUD7A

3-0392-000

chr15:
32250692-32250692

T

A

intergenic

De novo

-

-

Yuen2016 G

OTUD7A

3-0065-000

chr15:
31846622-31846622

T

G

intronic

De novo

-

-

Yuen2017 G

OTUD7A

AU4069302

chr15:
32226342-32226342

A

G

intergenic

De novo

-

-

Yuen2017 G

OTUD7A

AU017704

chr15:
32148978-32148983

TAAAAA

TAAAA

intergenic

De novo

-

-

Yuen2017 G

OTUD7A

12628.p1

Complex Event; expand row to view variants

De novo

nonframeshift deletion

NM_130901
NM_130901
NM_130901

c.1473_1481del
c.1466_1474del
c.1474_1482del

p.491_494del
p.489_492del
p.492_494del

-

Iossifov2012 E
Iossifov2014 E
Iossifov2014 E
Kosmicki2017 E
Kosmicki2017 E
Satterstrom2020 E

OTUD7A

2-0012-004

chr15:
32151697-32151697

T

C

intergenic

De novo

-

-

Yuen2017 G

OTUD7A

AU4079301

chr15:
32105082-32105082

G

A

intergenic

De novo

-

-

Yuen2017 G

OTUD7A

EGAN00001101277

chr15:
31941998-31941998

A

T

intronic

De novo

-

-

Fu2022 E

Source Variant Information

, -

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 notes	View
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