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Results for "UBAP2L"

Variant Events: 9

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
UBAP2L     14401.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_001127320
NM_001287815
NM_001287816
NM_014847
c.1959dupC
c.1938dupC
c.1992dupC
c.1959dupC
p.I653fs
p.I646fs
p.I664fs
p.I653fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
UBAP2L     AU4032305chr1:
154205286-154205286
GCintronicDe novo--Trost2022 G
Yuen2017 G
UBAP2L     SSC11730chr1:
154227676-154227676
TTCexonicframeshift insertionNM_001127320
NM_001287815
NM_001287816
NM_014847
c.1959dupC
c.1938dupC
c.1992dupC
c.1959dupC
p.I653fs
p.I646fs
p.I664fs
p.I653fs
--Antaki2022 GE
UBAP2L     5-5020-003chr1:
154205335-154205335
GCintronicDe novo--Trost2022 G
UBAP2L     SP0116200chr1:
154199741-154199741
CGintronicDe novo--Trost2022 G
UBAP2L     SP0146708chr1:
154241871-154241871
CTintronicDe novo13.28-Trost2022 G
UBAP2L     7-0486-003chr1:
154227484-154227484
TGintronicDe novo--Trost2022 G
UBAP2L     2-1131-003chr1:
154205176-154205176
AGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
UBAP2L     14401_p1chr1:
154227676-154227676
TTCexonicDe novoframeshift insertionNM_001127320
NM_001287815
NM_001287816
NM_014847
c.1959dupC
c.1938dupC
c.1992dupC
c.1959dupC
p.I653fs
p.I646fs
p.I664fs
p.I653fs
--Fu2022 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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