Variant Results

or

Results for "BUB1"

Variant Events: 20

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

2-1398-003

chr2:
111422742-111422742

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

BUB1

AU1742302

chr2:
111418795-111418795

G

A

intronic

De novo

-

Yuen2017 G

BUB1

Li2017:15030

chr2:
111416077-111416077

G

A

exonic

Unknown

stopgain

NM_001278616
NM_001278617
NM_004336

c.C1366T
c.C1426T
c.C1426T

p.Q456X
p.Q476X
p.Q476X

39.0

-

Li2017 T

BUB1

AU4150301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

BUB1

Wang2023:566

chr2:
111419308-111419308

T

A

exonic

De novo

nonsynonymous SNV

NM_001278616
NM_001278617
NM_004336

c.A1008T
c.A1068T
c.A1068T

p.R336S
p.R356S
p.R356S

11.42

-

Wang2023 E

BUB1

TRE_1030

chr2:
111395622-111395622

T

A

exonic

De novo

nonsynonymous SNV

NM_001278616
NM_001278617
NM_004336

c.A3117T
c.A3006T
c.A3177T

p.Q1039H
p.Q1002H
p.Q1059H

18.06

-

Fu2022 E

BUB1

2-1485-003

chr2:
111449536-111449536

C

T

intergenic

De novo

-

Yuen2017 G

BUB1

5-0030-003

chr2:
111420358-111420360

GAC

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BUB1

14696.p1

chr2:
111406869-111406869

A

G

exonic

De novo

synonymous SNV

NM_001278616
NM_001278617
NM_004336

c.T2229C
c.T2289C
c.T2289C

p.N743N
p.N763N
p.N763N

-

8.251E-6

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

BUB1

SSC12762

chr2:
111406869-111406869

A

G

exonic

De novo

synonymous SNV

NM_001278616
NM_001278617
NM_004336

c.T2229C
c.T2289C
c.T2289C

p.N743N
p.N763N
p.N763N

-

8.251E-6

Fu2022 E
Lim2017 E
Trost2022 G

BUB1

SP0011137

chr2:
111430250-111430250

T

C

exonic

De novo

nonsynonymous SNV

NM_001278616
NM_001278617
NM_004336

c.A350G
c.A410G
c.A410G

p.Q117R
p.Q137R
p.Q137R

13.61

-

Fu2022 E
Trost2022 G
Zhou2022 GE

BUB1

AU4239301

chr2:
111468241-111468241

G

A

intergenic

De novo

-

Yuen2017 G

BUB1

5006_202

chr2:
111398623-111398623

T

C

exonic

De novo

synonymous SNV

NM_001278616
NM_001278617
NM_004336

c.A2883G
c.A2772G
c.A2943G

p.P961P
p.P924P
p.P981P

-

8.812E-6

Lim2017 E

BUB1

1-0209-003

chr2:
111405509-111405509

T

A

intronic

De novo

-

Yuen2017 G

BUB1

SP0034318

chr2:
111415155-111415155

A

G

exonic

De novo

synonymous SNV

NM_001278616
NM_001278617
NM_004336

c.T1524C
c.T1584C
c.T1584C

p.H508H
p.H528H
p.H528H

-

Fu2022 E
Zhou2022 GE

BUB1

SP0051409

chr2:
111435624-111435624

C

A

UTR5

De novo

-

Fu2022 E

BUB1

08C76846

chr2:
111398623-111398623

T

C

exonic

De novo

synonymous SNV

NM_001278616
NM_001278617
NM_004336

c.A2883G
c.A2772G
c.A2943G

p.P961P
p.P924P
p.P981P

-

8.812E-6

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BUB1

4-0096-003

chr2:
111421531-111421531

G

A

intronic

De novo

-

Trost2022 G

BUB1

2-1720-003

chr2:
111444757-111444757

C

T

intergenic

De novo

-

Yuen2017 G

BUB1

2-1485-004

chr2:
111449536-111449536

C

T

intergenic

De 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 notes	View
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