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Results for "NUP214"

Variant Events: 12

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
NUP214     12289_p1chr9:
134049607-134049607
GAexonicDe novononsynonymous SNVNM_005085c.G3059Ap.R1020H36.01.648E-5Fu2022 E
NUP214     12680.p1chr9:
134067588-134067588
ATintronicDe novo-6.0E-4Turner2016 G
NUP214     2-1485-004chr9:
134069432-134069432
GGTintronicDe novo--Yuen2017 G
NUP214     12289.p1chr9:
134049607-134049607
GAexonicDe novononsynonymous SNVNM_005085c.G3059Ap.R1020H36.01.648E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
NUP214     SP0057072chr9:
134072651-134072651
CTexonicDe novononsynonymous SNVNM_005085c.C3770Tp.S1257F3.963-Fu2022 E
NUP214     200675742_1082034788chr9:
134049580-134049580
AGexonicDe novononsynonymous SNVNM_005085c.A3032Gp.Q1011R12.97-Fu2022 E
NUP214     AU071203chr9:
134127767-134127767
CTintergenicDe novo--Yuen2017 G
NUP214     SSC07901chr9:
134073325-134073325
ACexonicDe novononsynonymous SNVNM_005085c.A4444Cp.T1482P11.77-Fu2022 E
NUP214     PN400394chr9:
134073485-134073487
ACTAexonicUnknownframeshift deletionNM_005085c.4605_4606delp.D1535fs--Leblond2019 E
NUP214     Chen2017:73chr9:
134000981-134000981
CGUTR5De novo--Chen2017 E
NUP214     2-1245-003chr9:
134081842-134081842
TCintronicDe novo--Yuen2017 G
NUP214     2-1510-003chr9:
134121526-134121532
CAAGAGTCintergenicDe 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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