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Results for "NOP2"

Variant Events: 5

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
NOP2     Li2017:15051chr12:
6670111-6670111
GAexonicUnknownnonsynonymous SNVNM_001033714
NM_001258308
NM_001258310
NM_006170
NM_001258309
c.C1321T
c.C1333T
c.C1321T
c.C1321T
c.C1432T
p.R441C
p.R445C
p.R441C
p.R441C
p.R478C
22.51.682E-5Li2017 T
NOP2     AU061003chr12:
6676107-6676107
TGintronicDe novo--Yuen2017 G
NOP2     PN400308chr12:
6672599-6672599
CTexonicUnknownnonsynonymous SNVNM_001033714
NM_001258308
NM_001258310
NM_006170
NM_001258309
c.G758A
c.G770A
c.G758A
c.G758A
c.G869A
p.R253Q
p.R257Q
p.R253Q
p.R253Q
p.R290Q
37.00.0014Leblond2019 E
NOP2     A23chr12:
6666244-6666244
AAAexonicDe novoframeshift insertionNM_001033714
NM_001258308
NM_006170
NM_001258309
c.2342dupT
c.2354dupT
c.2342dupT
c.2453dupT
p.V781fs
p.V785fs
p.V781fs
p.V818fs
--Wu2018 G
NOP2     A15chr12:
6666244-6666244
AAAexonicDe novoframeshift insertionNM_001033714
NM_001258308
NM_006170
NM_001258309
c.2342dupT
c.2354dupT
c.2342dupT
c.2453dupT
p.V781fs
p.V785fs
p.V781fs
p.V818fs
--Wu2018 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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