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Results for "UBR4"

Variant Events: 24

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
UBR4     09C87498chr1:
19446711-19446711
GAexonicDe novononsynonymous SNVNM_020765c.C10273Tp.R3425C25.71.648E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
UBR4     AU3645301chr1:
19449615-19449615
GAintronicDe novo--Yuen2017 G
UBR4     13118.p1chr1:
19481533-19481533
CTexonicDe novononsynonymous SNVNM_020765c.G6337Ap.V2113M29.11.647E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
UBR4     AU3912301chr1:
19501541-19501541
TCintronicDe novo--Yuen2017 G
UBR4     AGG0064chr1:
19430735-19430735
AGexonicDe novosynonymous SNVNM_020765c.T12744Cp.F4248F--Satterstrom2020 E
UBR4     14099.p1chr1:
19528292-19528292
TGexonicMosaic, De novononsynonymous SNVNM_020765c.A194Cp.H65P22.4-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
UBR4     1-0464-003chr1:
19501740-19501740
TAintronicDe novo--Yuen2016 G
Yuen2017 G
UBR4     13567.p1chr1:
19494472-19494472
CTintronicDe novo--Satterstrom2020 E
UBR4     AU4412302chr1:
19488721-19488721
TAintronicDe novo--Yuen2017 G
UBR4     DEASD_1032_001chr1:
19442140-19442140
GCintronicDe novo--Satterstrom2020 E
UBR4     36.s1chr1:
19480238-19480238
TAintronicDe novo--An2014 E
UBR4     SJD_10chr1:
19439148-19439148
CAexonicPaternalnonsynonymous SNVNM_020765c.G11671Tp.A3891S32.0-Toma2013 E
UBR4     2-0126-004chr1:
19467975-19467975
CAexonicDe novononsynonymous SNVNM_020765c.G8354Tp.G2785V18.16-Yuen2015 G
UBR4     Lim2017:70477chr1:
19528292-19528292
TGexonicDe novononsynonymous SNVNM_020765c.A194Cp.H65P22.4-Lim2017 E
UBR4     1-0387-003chr1:
19463783-19463783
GAintronicDe novo--Yuen2016 G
Yuen2017 G
UBR4     A14chr1:
19523436-19523436
GAintronicDe novo--Wu2018 G
UBR4     Chen2017:68chr1:
19403354-19403354
GCexonicDe novononsynonymous SNVNM_020765c.C15367Gp.L5123V25.1-Chen2017 E
UBR4     2-1258-003chr1:
19485829-19485829
AAACintronicDe novo--Yuen2017 G
UBR4     131-11-113849chr1:
19420009-19420009
GTintronicDe novo--Satterstrom2020 E
UBR4     200675515@1082034250chr1:
19403354-19403354
GCexonicDe novononsynonymous SNVNM_020765c.C15367Gp.L5123V25.1-Satterstrom2020 E
UBR4     G01-GEA-143-HIchr1:
19494654-19494654
TAexonicDe novononsynonymous SNVNM_020765c.A3766Tp.I1256F20.1-Lim2017 E
Satterstrom2020 E
UBR4     PN400487chr1:
19408153-19408153
GAintronicUnknown22.82.0E-4Leblond2019 E
UBR4     1-0372-003chr1:
19403653-19403653
CTintronicDe novo--Yuen2016 G
Yuen2017 G
UBR4     1-0160-004chr1:
19486128-19486128
AGintronicDe novo--Yuen2017 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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