or
or
Exact

Results for "NUP98"

Variant Events: 17

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
NUP98     AU2123302chr11:
3702021-3702021
AGintronicDe novo--Trost2022 G
Yuen2017 G
NUP98     1-0842-003chr11:
3771870-3771870
TCintronicDe novo--Trost2022 G
NUP98     1-1063-003chr11:
3815115-3815115
CTintronicDe novo--Trost2022 G
NUP98     2-1369-003chr11:
3770563-3770563
TAintronicDe novo--Trost2022 G
NUP98     09C85773Achr11:
3721958-3721958
GAexonicDe novosynonymous SNVNM_016320
NM_139132
c.C3624T
c.C3624T
p.H1208H
p.H1208H
8.86-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Zhou2022 GE
NUP98     11722.p1chr11:
3707194-3707194
CTintronicDe novo-1.0E-4Satterstrom2020 E
NUP98     MSSNG00359-004chr11:
3771569-3771569
GAintronicDe novo--Trost2022 G
NUP98     3-0666-001chr11:
3731684-3731684
CTintronicDe novo--Trost2022 G
NUP98     3-0380-002chr11:
3761737-3761739
ACTAintronicDe novo--Trost2022 G
NUP98     C209603chr11:
3797213-3797213
TGexonicDe novononsynonymous SNVNM_005387
NM_016320
NM_139131
NM_139132
c.A394C
c.A394C
c.A394C
c.A394C
p.T132P
p.T132P
p.T132P
p.T132P
20.7-Fu2022 E
NUP98     1-0452-003chr11:
3766238-3766238
CTintronicDe novo--Trost2022 G
Yuen2017 G
NUP98     AU4412302chr11:
3738307-3738307
CTintronicDe novo--Trost2022 G
Yuen2017 G
NUP98     GM182000chr11:
3704666-3704666
CTexonicDe novononsynonymous SNVNM_139132
NM_016320
c.G4460A
c.G4682A
p.R1487H
p.R1561H
26.1-Fu2022 E
NUP98     5432chr11:
3707194-3707194
CTintronicDe novo-1.0E-4Trost2022 G
NUP98     SP0008440chr11:
3720449-3720449
CTexonicDe novononsynonymous SNVNM_016320
NM_139132
c.G3872A
c.G3872A
p.R1291H
p.R1291H
11.18-Feliciano2019 E
Trost2022 G
Zhou2022 GE
NUP98     AU063005chr11:
3721776-3721776
GAintronicDe novo--Trost2022 G
Yuen2017 G
NUP98     SP0068589chr11:
3697490-3697490
GAexonicDe novononsynonymous SNVNM_139132
NM_016320
c.C5080T
c.C5302T
p.P1694S
p.P1768S
14.09-Fu2022 E
Trost2022 G
Zhou2022 GE
Source Variant Information

, -

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
More