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Results for "NUP214"

Variant Events: 23

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
Trost2022 G
Wilfert2021 G
Zhou2022 GE
NUP214     1-1191-003chr9:
134051963-134051963
GTintronicDe novo--Trost2022 G
NUP214     2-1143-003chr9:
134085384-134085384
CGintronicDe novo--Trost2022 G
NUP214     4-0073-003chr9:
134034639-134034640
CTTAintronicDe novo--Trost2022 G
NUP214     SP0057072chr9:
134072651-134072651
CTexonicDe novononsynonymous SNVNM_005085c.C3770Tp.S1257F3.963-Fu2022 E
Trost2022 G
Zhou2022 GE
NUP214     1-1072-003chr9:
134044427-134044427
TTGintronicDe novo--Trost2022 G
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     2-1552-003chr9:
134000974-134000975
AGAUTR5De novo-9.981E-5Trost2022 G
NUP214     MSSNG00226-003chr9:
134101919-134101919
AGintronicDe novo--Trost2022 G
NUP214     mAGRE5940chr9:
134073485-134073487
ACTAexonicMaternalframeshift deletionNM_005085c.4605_4606delp.D1535fs--Cirnigliaro2023 G
NUP214     mAGRE5939chr9:
134073485-134073487
ACTAexonicMaternalframeshift deletionNM_005085c.4605_4606delp.D1535fs--Cirnigliaro2023 G
NUP214     MSSNG00327-003chr9:
134091643-134091643
GTintronicDe novo--Trost2022 G
NUP214     PN400394chr9:
134073485-134073487
ACTAexonicUnknownframeshift deletionNM_005085c.4605_4606delp.D1535fs--Leblond2019 E
NUP214     MSSNG00434-003chr9:
134092619-134092619
ACintronicDe novo--Trost2022 G
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
NUP214     SP0037688chr9:
134106047-134106047
CTexonicsynonymous SNVNM_005085c.C6105Tp.F2035F12.227.416E-5Zhou2022 GE
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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