or
or
Exact

Results for "BUB3"

Variant Events: 36

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
BUB3     1-0991-003chr10:
125209510-125209510
CAintergenicDe novo--Yuen2017 G
BUB3     AU4233301chr10:
125011957-125011957
GAintergenicDe novo--Yuen2017 G
BUB3     2-0149-003chr10:
125087292-125087292
TCintergenicDe novo--Yuen2017 G
BUB3     7-0171-003chr10:
125223860-125223860
AGintergenicDe novo--Yuen2017 G
BUB3     2-0272-003chr10:
124935501-124935501
GTintergenicDe novo--Yuen2017 G
BUB3     AU3794301chr10:
125096484-125096484
AGintergenicDe novo--Yuen2017 G
BUB3     2-1408-004chr10:
125202968-125202968
CTintergenicDe novo--Yuen2017 G
BUB3     1-0024-003chr10:
125038642-125038642
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
BUB3     1-0395-004chr10:
124961337-124961337
TCintergenicDe novo--Yuen2017 G
BUB3     2-0070-004chr10:
125029701-125029701
GCintergenicDe novo--Yuen2017 G
BUB3     1-0024-003chr10:
125061350-125061350
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
BUB3     1-0024-003chr10:
125203188-125203188
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
BUB3     AU063005chr10:
125014176-125014176
AGintergenicDe novo--Yuen2017 G
BUB3     1-0158-003chr10:
125413015-125413015
AAGAGTintergenicDe novo--Yuen2017 G
BUB3     13825.p1chr10:
125382165-125382165
TGintergenicDe novo--Wilfert2021 G
BUB3     2-1356-003chr10:
125215517-125215517
TCintergenicDe novo--Yuen2016 G
BUB3     AU056003chr10:
125264716-125264716
GAintergenicDe novo--Yuen2017 G
BUB3     5-0018-003chr10:
125389693-125389693
TCintergenicDe novo--Yuen2017 G
BUB3     7-0255-003chr10:
125393806-125393807
GCGintergenicDe novo--Yuen2017 G
BUB3     AU4365302chr10:
125298487-125298487
CTintergenicDe novo--Yuen2017 G
BUB3     1-0049-004chr10:
125377752-125377752
CAintergenicDe novo--Yuen2017 G
BUB3     AU028305chr10:
125053377-125053377
ATintergenicDe novo--Yuen2017 G
BUB3     AU3649304chr10:
125152328-125152328
TCintergenicDe novo--Yuen2017 G
BUB3     13187.p1 Complex Event; expand row to view variants  De novo--Dong2014 E
Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
BUB3     2-0305-004chr10:
125230999-125230999
CCCATTintergenicDe novo--Yuen2017 G
BUB3     AU1521301chr10:
125091666-125091666
CTintergenicDe novo--Yuen2017 G
BUB3     1-0139-005chr10:
125410185-125410185
CTintergenicDe novo--Yuen2017 G
BUB3     1-0898-003chr10:
124969340-124969340
GTintergenicDe novo--Yuen2017 G
BUB3     1-0433-003chr10:
125020013-125020013
GAintergenicDe novo--Yuen2017 G
BUB3     1-0554-003chr10:
125274033-125274033
GAintergenicDe novo--Yuen2017 G
BUB3     1-0025-004chr10:
124997928-124997928
CTintergenicDe novo--Yuen2017 G
BUB3     5-0025-003chr10:
125163133-125163133
CGintergenicDe novo--Yuen2017 G
BUB3     1-0701-003chr10:
125255353-125255353
CTintergenicDe novo--Yuen2017 G
BUB3     1-0395-003chr10:
124961337-124961337
TCintergenicDe novo--Yuen2017 G
BUB3     1-0219-003chr10:
124953872-124953873
ACAintergenicDe novo--Yuen2017 G
BUB3     5-0077-003chr10:
125351724-125351724
AGintergenicDe novo--Yuen2017 G
Source Variant Information

, -

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
More