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Results for "CUL9"

Variant Events: 10

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
CUL9     AC02-1141-01chr6:
43191842-43191842
GAexonicDe novononsynonymous SNVNM_015089c.G7294Ap.V2432I14.79-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CUL9     21165-33301chr6:
43188203-43188204
TGTexonicstopgainNM_015089c.6290delGp.W2097X--Callaghan2019 G
CUL9     5-0015-003chr6:
43154551-43154551
TGintronicDe novo--Yuen2017 G
CUL9     11558.p1chr6:
43173047-43173047
GAexonicDe novononsynonymous SNVNM_015089c.G4679Ap.G1560D18.36-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
CUL9     SSC06476chr6:
43184100-43184100
GAexonicDe novosynonymous SNVNM_015089c.G6141Ap.E2047E--Lim2017 E
CUL9     13005.p1chr6:
43184100-43184100
GAexonicDe novosynonymous SNVNM_015089c.G6141Ap.E2047E--Krumm2015 E
CUL9     2-1441-003chr6:
43163042-43163042
GTintronicDe novo--Yuen2017 G
CUL9     AU4467302chr6:
43178013-43178013
CTintronicDe novo--Yuen2017 G
CUL9     SSC01947chr6:
43173047-43173047
GAexonicDe novononsynonymous SNVNM_015089c.G4679Ap.G1560D18.36-Lim2017 E
CUL9     G01-GEA-135-HIchr6:
43164569-43164569
CTexonicDe novosynonymous SNVNM_015089c.C2772Tp.Y924Y--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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