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Results for "UBAP2"

Variant Events: 13

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
UBAP2     07C63795chr9:
33924220-33924220
AGexonicDe novosynonymous SNVNM_001282530
NM_001282529
NM_018449
c.T291C
c.T1773C
c.T2574C
p.A97A
p.A591A
p.A858A
--Satterstrom2020 E
UBAP2     iHART1060chr9:
33922993-33922993
TTAexonicPaternalframeshift insertionNM_001282530
NM_001282529
NM_018449
c.759dupT
c.2241dupT
c.3042dupT
p.M254fs
p.M748fs
p.M1015fs
-8.239E-6Ruzzo2019 G
UBAP2     2-1174-006chr9:
33943780-33943780
GAintronicDe novo--Yuen2017 G
UBAP2     iHART1064chr9:
33922993-33922993
TTAexonicPaternalframeshift insertionNM_001282530
NM_001282529
NM_018449
c.759dupT
c.2241dupT
c.3042dupT
p.M254fs
p.M748fs
p.M1015fs
-8.239E-6Ruzzo2019 G
UBAP2     2-0270-004chr9:
33977046-33977046
TTAintronicDe novo--Yuen2017 G
UBAP2     2-0297-004chr9:
33989059-33989064
CTCTTTCTexonicDe novoframeshift deletionNM_018449c.349_352delp.K117fs--Yuen2017 G
UBAP2     SP0007188chr9:
33922728-33922728
GAexonicDe novononsynonymous SNVNM_001282530
NM_001282529
NM_018449
c.C938T
c.C2420T
c.C3221T
p.P313L
p.P807L
p.P1074L
17.729.058E-6Feliciano2019 E
UBAP2     1-0181-004chr9:
34058103-34058103
GAintergenicDe novo--Yuen2017 G
UBAP2     2-0208-004chr9:
34041608-34041608
TCintronicDe novo--Yuen2017 G
UBAP2     12340.p1chr9:
33986218-33986218
TCintronicDe novo--Iossifov2014 E
Kosmicki2017 E
UBAP2     1-0455-004chr9:
33957350-33957350
GAintronicDe novo--Yuen2017 G
UBAP2     09C86256chr9:
33948584-33948584
GAexonicDe novononsynonymous SNVNM_001282529
NM_018449
c.C257T
c.C1058T
p.S86L
p.S353L
28.8-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
UBAP2     2-1182-003chr9:
33949791-33949791
GAintronicDe novo--Yuen2016 G
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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