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Results for "VRK2"

Variant Events: 11

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
VRK2     AU058105chr2:
58345437-58345437
GAintronicDe novo--Yuen2017 G
VRK2     AU060403chr2:
58283018-58283018
TCintronicDe novo--Yuen2017 G
VRK2     74-0688chr2:
58231224-58231224
TAintronicDe novo--Michaelson2012 G
VRK2     AU005214chr2:
58138841-58138841
ATintronicDe novo--Yuen2017 G
VRK2     74-0355chr2:
58288502-58288502
TAintronicDe novo--Michaelson2012 G
VRK2     AU4164301chr2:
58152242-58152250
TTTAGTATTTTTintronicDe novo--Yuen2017 G
VRK2     AU062204chr2:
58224826-58224826
TCintronicDe novo--Yuen2017 G
VRK2     11002.p1chr2:
58238110-58238110
CGintronicDe novo--Turner2016 G
VRK2     11002.p1chr2:
58310173-58310173
TGintronicDe novo--Turner2016 G
VRK2     7-0254-003chr2:
58185323-58185323
TCintronicDe novo--Yuen2017 G
VRK2     AU3765303chr2:
58323175-58323175
AGintronicDe 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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