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Results for "UBR1"

Variant Events: 19

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
UBR1     1-0595-005chr15:
43357720-43357720
CTintronicDe novo--Yuen2017 G
UBR1     AU3051303chr15:
43282754-43282754
GAintronicDe novo--Yuen2017 G
UBR1     AU3875301chr15:
43338404-43338404
CTintronicDe novo--Yuen2017 G
UBR1     iHART2253chr15:
43252854-43252854
GGTexonicMaternalframeshift insertionNM_174916c.4745dupAp.N1582fs--Ruzzo2019 G
UBR1     2-1131-003chr15:
43373145-43373145
TCintronicDe novo--Yuen2016 G
Yuen2017 G
UBR1     iHART2255chr15:
43252854-43252854
GGTexonicMaternalframeshift insertionNM_174916c.4745dupAp.N1582fs--Ruzzo2019 G
UBR1     AU4343302chr15:
43319762-43319762
AGintronicDe novo--Yuen2017 G
UBR1     1-0629-003chr15:
43414416-43414417
CTCintergenicDe novo--Yuen2017 G
UBR1     2-1506-003chr15:
43390143-43390143
TCintronicDe novo--Yuen2017 G
UBR1     1-0044-003chr15:
43263361-43263361
ACintronicDe novo--Yuen2017 G
UBR1     2-0295-003chr15:
43396452-43396452
GAintronicDe novo--Yuen2017 G
UBR1     1-0563-003chr15:
43353286-43353288
CAGCintronicDe novo--Yuen2017 G
UBR1     1-0683-004chr15:
43315354-43315354
GCintronicDe novo--Yuen2017 G
UBR1     08C74665chr15:
43317109-43317109
AGexonicDe novononsynonymous SNVNM_174916c.T2657Cp.I886T17.75-Satterstrom2020 E
UBR1     1-0563-004chr15:
43353286-43353288
CAGCintronicDe novo--Yuen2017 G
UBR1     MAC961chr15:
43256165-43256165
TCexonicDe novosynonymous SNVNM_174916c.A4668Gp.E1556E--Satterstrom2020 E
UBR1     502-05-104237chr15:
43270098-43270098
TCexonicDe novononsynonymous SNVNM_174916c.A4198Gp.I1400V8.3648.3E-6Satterstrom2020 E
UBR1     7-0249-003chr15:
43411785-43411785
TCintergenicDe novo--Yuen2017 G
UBR1     AU4242302chr15:
43319445-43319445
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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