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Results for "PTPRK"

Variant Events: 43

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
PTPRK     AU036203chr6:
128412215-128412215
CAintronicDe novo--Yuen2017 G
PTPRK     2-0285-004chr6:
128503275-128503281
ATAAACTAintronicDe novo--Yuen2017 G
PTPRK     AU051504chr6:
128839605-128839605
GAintronicDe novo--Yuen2017 G
PTPRK     2-1322-003chr6:
128517156-128517156
CAintronicDe novo--Yuen2017 G
PTPRK     10C107875chr6:
128297758-128297758
CAintronicDe novo--Kosmicki2017 E
PTPRK     1-0032-003chr6:
128455510-128455510
GAintronicDe novo--Yuen2017 G
PTPRK     AU2975301chr6:
129043373-129043384
TTATATATATATTTATATATATATATintergenicDe novo--Yuen2017 G
PTPRK     2-1591-003chr6:
128630706-128630706
CGintronicDe novo--Yuen2017 G
PTPRK     A27chr6:
128860739-128860739
TCintergenicDe novo--Wu2018 G
PTPRK     2-1425-004chr6:
128976558-128976558
AATTTintergenicDe novo--Yuen2017 G
PTPRK     AU3586303chr6:
128478255-128478260
ATAGTAATAintronicDe novo--Yuen2017 G
PTPRK     AU2139305chr6:
128835739-128835739
AGintronicDe novo--Yuen2017 G
PTPRK     2-1254-003chr6:
128751837-128751837
CTintronicDe novo--Yuen2016 G
PTPRK     13629.p1chr6:
128326372-128326372
CTexonicDe novononsynonymous SNVNM_001135648
NM_001291981
NM_001291984
NM_002844
NM_001291982
NM_001291983
c.G2351A
c.G2351A
c.G2348A
c.G2351A
c.G2381A
c.G2036A
p.R784H
p.R784H
p.R783H
p.R784H
p.R794H
p.R679H
24.32.502E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Wilfert2021 G
PTPRK     1-0006-003chr6:
128726698-128726698
CTintronicDe novo--Yuen2017 G
PTPRK     AU3713301chr6:
129162549-129162549
ATintergenicDe novo--Yuen2017 G
PTPRK     AU075207chr6:
128850477-128850477
CAintergenicDe novo--Yuen2017 G
PTPRK     1-0079-003chr6:
128915859-128915859
CGintergenicDe novo--Yuen2017 G
PTPRK     1-0305-004chr6:
128696884-128696884
AGintronicDe novo--Yuen2017 G
PTPRK     5-0050-004chr6:
128671888-128671888
ATintronicDe novo--Yuen2017 G
PTPRK     1-0300-003chr6:
129142982-129142982
AGintergenicDe novo--Yuen2017 G
PTPRK     1-0972-003chr6:
128317827-128317827
GAintronicDe novo--Yuen2017 G
PTPRK     2-1306-004chr6:
129150871-129150871
CAintergenicDe novo--Yuen2017 G
PTPRK     A28chr6:
129044115-129044115
AGintergenicDe novo--Wu2018 G
PTPRK     1-0715-003chr6:
128489306-128489306
GAintronicDe novo--Yuen2017 G
PTPRK     AU2019302chr6:
129081654-129081654
CTintergenicDe novo--Yuen2017 G
PTPRK     AU3881301chr6:
129143734-129143734
GCintergenicDe novo--Yuen2017 G
PTPRK     2-0122-004chr6:
128765085-128765085
CTintronicDe novo--Yuen2017 G
PTPRK     2-1066-004chr6:
128493256-128493256
GAintronicDe novo--Yuen2017 G
PTPRK     AU0636303chr6:
128726359-128726359
CAintronicDe novo--Yuen2017 G
PTPRK     2-1605-004chr6:
129128428-129128428
TCintergenicDe novo--Yuen2017 G
PTPRK     7-0254-003chr6:
128828388-128828394
CAAAAAACAAAAAAAintronicDe novo--Yuen2017 G
PTPRK     AU3951302chr6:
128523997-128523997
GAintronicDe novo--Yuen2017 G
PTPRK     AU061104chr6:
128907519-128907523
ACCCCACCCintergenicDe novo--Yuen2017 G
PTPRK     2-0303-004chr6:
129090672-129090672
CTintergenicDe novo--Yuen2017 G
PTPRK     2-1633-003chr6:
129102401-129102401
GAintergenicDe novo--Yuen2017 G
PTPRK     2-1112-003chr6:
128550170-128550170
CAintronicDe novo--Yuen2017 G
PTPRK     2-1268-003chr6:
128845121-128845121
TCintergenicDe novo--Yuen2017 G
PTPRK     5-0111-003chr6:
128661638-128661639
AGAintronicDe novo--Yuen2017 G
PTPRK     2-1455-003chr6:
128832674-128832674
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PTPRK     63-343chr6:
128296459-128296459
GAintronicDe novo--Michaelson2012 G
PTPRK     2-1306-003chr6:
129150871-129150871
CAintergenicDe novo--Yuen2017 G
PTPRK     5-0114-003chr6:
128334143-128334143
CTintronicDe 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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