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Results for "UBE2MP1"

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
UBE2MP1   AU2569303chr16:
34594787-34594787
ATintergenicDe novo--Yuen2017 G
UBE2MP1   AU3635301chr16:
34487869-34487869
GCintergenicDe novo--Yuen2017 G
UBE2MP1   AU3649305chr16:
34524497-34524497
TCintergenicDe novo--Yuen2017 G
UBE2MP1   AU3760302chr16:
34456935-34456935
AGintergenicDe novo--Yuen2017 G
UBE2MP1   1-0358-003chr16:
34475101-34475103
AAGAintergenicDe novo--Yuen2017 G
UBE2MP1   2-1093-009chr16:
34587534-34587534
GAintergenicDe novo--Yuen2017 G
UBE2MP1   13502.p1chr16:
34476339-34476339
ACintergenicDe novo--Werling2018 G
UBE2MP1   12900.p1chr16:
34480390-34480390
GAintergenicMosaic Mat.--Dou2017 E
UBE2MP1   2-1093-005chr16:
34587534-34587534
GAintergenicDe novo--Yuen2017 G
UBE2MP1   AU3847302chr16:
34590231-34590241
ATCTTTTCTTTATCTTTintergenicDe 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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