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Results for "NUP133"

Variant Events: 8

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
NUP133     5-0040-003chr1:
229643446-229643449
CATACintronicDe novo--Yuen2017 G
NUP133     12821.p1chr1:
229637765-229637765
GAexonicDe novononsynonymous SNVNM_018230c.C386Tp.A129V15.03-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
NUP133     A27chr1:
229581017-229581017
AGintronicDe novo--Wu2018 G
NUP133     14015.p1chr1:
229632275-229632275
GAintronicDe novo--Turner2016 G
NUP133     AU1848302chr1:
229625067-229625067
CTintronicDe novo--Yuen2017 G
NUP133     12153.p1chr1:
229596508-229596508
TCexonicDe novosynonymous SNVNM_018230c.A2694Gp.S898S--Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
NUP133     13703.p1chr1:
229602434-229602434
TCexonicDe novononsynonymous SNVNM_018230c.A2146Gp.M716V1.4438.241E-6Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
NUP133     SSC05931chr1:
229637765-229637765
GAexonicDe novononsynonymous SNVNM_018230c.C386Tp.A129V15.03-Lim2017 E
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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