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Results for "NUP153"

Variant Events: 9

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
NUP153     PN400512chr6:
17649494-17649494
GAexonicUnknownnonsynonymous SNVNM_001278210
NM_005124
NM_001278209
c.C1433T
c.C1433T
c.C1526T
p.P478L
p.P478L
p.P509L
19.050.0065Leblond2019 E
NUP153     2-1357-004chr6:
17742699-17742699
CGintergenicDe novo--Yuen2017 G
NUP153     AU2793303chr6:
17643773-17643773
CTintronicDe novo--Yuen2017 G
NUP153     DEASD_1087_001chr6:
17648171-17648171
AGintronicDe novo--Satterstrom2020 E
NUP153     1-0526-003chr6:
17729928-17729928
AATintergenicDe novo--Yuen2017 G
NUP153     AU3680302chr6:
17624050-17624050
AGintronicDe novo--Yuen2017 G
NUP153     G01-GEA-3-HI(chr6:
17629408-17629408
CGexonicDe novononsynonymous SNVNM_001278210
NM_005124
NM_001278209
c.G2896C
c.G3022C
c.G3115C
p.E966Q
p.E1008Q
p.E1039Q
3.503-Satterstrom2020 E
NUP153     74-0765chr6:
17626137-17626137
GCexonicInheritednonsynonymous SNVNM_001278210
NM_005124
NM_001278209
c.C3677G
c.C3803G
c.C3896G
p.T1226R
p.T1268R
p.T1299R
15.292.472E-5Patowary2019 E
NUP153     A28chr6:
17707074-17707074
TCupstreamDe novo--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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