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Results for "NUP210"

Variant Events: 14

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
NUP210     AU2029303chr3:
13413116-13413116
GAintronicDe novo--Yuen2017 G
NUP210     SSC05882chr3:
13367336-13367336
CAexonicDe novononsynonymous SNVNM_024923c.G4603Tp.V1535F9.885-Lim2017 E
NUP210     5-0055-004chr3:
13439895-13439895
AAACintronicDe novo--Yuen2017 G
NUP210     12582.p1chr3:
13367336-13367336
CAexonicDe novononsynonymous SNVNM_024923c.G4603Tp.V1535F9.885-Krumm2015 E
Satterstrom2020 E
NUP210     08C78163chr3:
13395484-13395484
TCexonicDe novononsynonymous SNVNM_024923c.A2452Gp.S818G11.0-Satterstrom2020 E
NUP210     1-0590-003chr3:
13450018-13450018
CTintronicDe novo--Yuen2017 G
NUP210     AU2029302chr3:
13413116-13413116
GAintronicDe novo--Yuen2017 G
NUP210     12035.p1chr3:
13399786-13399786
GAexonicMosaicnonsynonymous SNVNM_024923c.C2264Tp.A755V2.9290.2616Dou2017 E
NUP210     1-0274-003chr3:
13482159-13482159
CTintergenicDe novo--Yuen2017 G
NUP210     5-0055-003chr3:
13439895-13439895
AAACintronicDe novo--Yuen2017 G
NUP210     1-0274-004chr3:
13482159-13482159
CTintergenicDe novo--Yuen2017 G
NUP210     13973.p1chr3:
13417817-13417817
CTexonicDe novononsynonymous SNVNM_024923c.G1267Ap.A423T22.41.0E-4Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
NUP210     iHART1383chr3:
13368888-13368888
CCAexonicMaternalframeshift insertionNM_024923c.4335dupTp.V1446fs--Ruzzo2019 G
NUP210     1-0107-003chr3:
13370565-13370565
GAintronicDe novo--Yuen2016 G
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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