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Results for "VCP"

Variant Events: 12

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
VCP     2-0295-004chr9:
35069741-35069742
ACAintronicDe novo--Trost2022 G
Yuen2017 G
VCP     AU030504chr9:
35060803-35060803
CAexonicUnknownnonsynonymous SNVNM_007126c.G1477Tp.V493F25.5-Stessman2017 T
VCP     2-1182-003chr9:
35056839-35056839
AGUTR3De novo--Yuen2016 G
Yuen2017 G
VCP     ASC_11517-1chr9:
35066820-35066820
GAintronicDe novo--Fu2022 E
VCP     SP0229436chr9:
35064174-35064174
GAexonicDe novononsynonymous SNVNM_007126c.C685Tp.L229F30.0-Trost2022 G
VCP     220-9860-201chr9:
35061615-35061615
TGexonicDe novononsynonymous SNVNM_007126c.A1153Cp.T385P23.7-O’Roak2014 T
VCP     SSC08216chr9:
35060455-35060460
TAGAACTexonicDe novoframeshift deletionNM_007126c.1545_1549delp.L515fs--Fu2022 E
Trost2022 G
VCP     SP0242932chr9:
35067940-35067940
TCexonicDe novononsynonymous SNVNM_007126c.A250Gp.M84V14.6-Trost2022 G
VCP     13646.p1 Complex Event; expand row to view variants  De novoframeshift deletionNM_007126
NM_007126
c.1545_1549del
c.1544_1548del
p.L515fs
p.L515fs
--Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Willsey2013 E
Zhou2022 GE
VCP     SP0071274chr9:
35071996-35071996
GAintronicDe novo--Fu2022 E
Trost2022 G
VCP     217-14379-4920chr9:
35060821-35060821
GAexonicUnknownnonsynonymous SNVNM_007126c.C1459Tp.R487C19.151.647E-5Stessman2017 T
VCP     SP0053549chr9:
35059828-35059828
TTAintronicDe novo--Fu2022 E
Trost2022 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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