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Results for "BUB1"

Variant Events: 14

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
BUB1     2-1398-003chr2:
111422742-111422742
TCintronicDe novo--Yuen2017 G
BUB1     AU1742302chr2:
111418795-111418795
GAintronicDe novo--Yuen2017 G
BUB1     Li2017:15030chr2:
111416077-111416077
GAexonicUnknownstopgainNM_001278616
NM_001278617
NM_004336
c.C1366T
c.C1426T
c.C1426T
p.Q456X
p.Q476X
p.Q476X
39.0-Li2017 T
BUB1     AU4150301chr2:
111428849-111428861
TGTAAGAAATAAGTGintronicDe novo--Yuen2017 G
BUB1     2-1485-003chr2:
111449536-111449536
CTintergenicDe novo--Yuen2017 G
BUB1     5-0030-003chr2:
111420358-111420360
GACGintronicDe novo--Yuen2017 G
BUB1     14696.p1chr2:
111406869-111406869
AGexonicDe novosynonymous SNVNM_001278616
NM_001278617
NM_004336
c.T2229C
c.T2289C
c.T2289C
p.N743N
p.N763N
p.N763N
-8.251E-6Krumm2015 E
Satterstrom2020 E
BUB1     SSC12762chr2:
111406869-111406869
AGexonicDe novosynonymous SNVNM_001278616
NM_001278617
NM_004336
c.T2229C
c.T2289C
c.T2289C
p.N743N
p.N763N
p.N763N
-8.251E-6Lim2017 E
BUB1     AU4239301chr2:
111468241-111468241
GAintergenicDe novo--Yuen2017 G
BUB1     5006_202chr2:
111398623-111398623
TCexonicDe novosynonymous SNVNM_001278616
NM_001278617
NM_004336
c.A2883G
c.A2772G
c.A2943G
p.P961P
p.P924P
p.P981P
-8.812E-6Lim2017 E
BUB1     1-0209-003chr2:
111405509-111405509
TAintronicDe novo--Yuen2017 G
BUB1     08C76846chr2:
111398623-111398623
TCexonicDe novosynonymous SNVNM_001278616
NM_001278617
NM_004336
c.A2883G
c.A2772G
c.A2943G
p.P961P
p.P924P
p.P981P
-8.812E-6Satterstrom2020 E
BUB1     2-1720-003chr2:
111444757-111444757
CTintergenicDe novo--Yuen2017 G
BUB1     2-1485-004chr2:
111449536-111449536
CTintergenicDe 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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