Variant Results

or

Results for "BUB3"

Variant Events: 39

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

1-0991-003

chr10:
125209510-125209510

C

A

intergenic

De novo

-

Yuen2017 G

BUB3

AU4233301

chr10:
125011957-125011957

G

A

intergenic

De novo

-

Yuen2017 G

BUB3

SSC06985

chr10:
124923291-124923292

GC

G

intronic

De novo

-

Trost2022 G

BUB3

2-0149-003

chr10:
125087292-125087292

T

C

intergenic

De novo

-

Yuen2017 G

BUB3

7-0171-003

chr10:
125223860-125223860

A

G

intergenic

De novo

-

Yuen2017 G

BUB3

2-0272-003

chr10:
124935501-124935501

G

T

intergenic

De novo

-

Yuen2017 G

BUB3

AU3794301

chr10:
125096484-125096484

A

G

intergenic

De novo

-

Yuen2017 G

BUB3

2-1408-004

chr10:
125202968-125202968

C

T

intergenic

De novo

-

Yuen2017 G

BUB3

1-0024-003

chr10:
125038642-125038642

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

BUB3

1-0395-004

chr10:
124961337-124961337

T

C

intergenic

De novo

-

Yuen2017 G

BUB3

2-0070-004

chr10:
125029701-125029701

G

C

intergenic

De novo

-

Yuen2017 G

BUB3

1-0024-003

chr10:
125061350-125061350

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

BUB3

SP0074008

chr10:
124924236-124924236

C

T

UTR3

De novo

-

Fu2022 E
Trost2022 G

BUB3

1-0024-003

chr10:
125203188-125203188

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

BUB3

AU063005

chr10:
125014176-125014176

A

G

intergenic

De novo

-

Yuen2017 G

BUB3

1-0158-003

chr10:
125413015-125413015

A

AGAGT

intergenic

De novo

-

Yuen2017 G

BUB3

13825.p1

chr10:
125382165-125382165

T

G

intergenic

De novo

-

Wilfert2021 G

BUB3

2-1356-003

chr10:
125215517-125215517

T

C

intergenic

De novo

-

Yuen2016 G

BUB3

AU056003

chr10:
125264716-125264716

G

A

intergenic

De novo

-

Yuen2017 G

BUB3

5-0018-003

chr10:
125389693-125389693

T

C

intergenic

De novo

-

Yuen2017 G

BUB3

7-0255-003

chr10:
125393806-125393807

GC

G

intergenic

De novo

-

Yuen2017 G

BUB3

AU4365302

chr10:
125298487-125298487

C

T

intergenic

De novo

-

Yuen2017 G

BUB3

1-0049-004

chr10:
125377752-125377752

C

A

intergenic

De novo

-

Yuen2017 G

BUB3

AU028305

chr10:
125053377-125053377

A

T

intergenic

De novo

-

Yuen2017 G

BUB3

IGM3989

chr10:
124922233-124922233

A

G

exonic

De novo

nonsynonymous SNV

NM_001007793
NM_004725

c.A860G
c.A860G

p.D287G
p.D287G

29.9

-

Fu2022 E

BUB3

AU3649304

chr10:
125152328-125152328

T

C

intergenic

De 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

2-0305-004

chr10:
125230999-125230999

C

CCATT

intergenic

De novo

-

Yuen2017 G

BUB3

AU1521301

chr10:
125091666-125091666

C

T

intergenic

De novo

-

Yuen2017 G

BUB3

1-0139-005

chr10:
125410185-125410185

C

T

intergenic

De novo

-

Yuen2017 G

BUB3

1-0898-003

chr10:
124969340-124969340

G

T

intergenic

De novo

-

Yuen2017 G

BUB3

1-0433-003

chr10:
125020013-125020013

G

A

intergenic

De novo

-

Yuen2017 G

BUB3

1-0554-003

chr10:
125274033-125274033

G

A

intergenic

De novo

-

Yuen2017 G

BUB3

1-0025-004

chr10:
124997928-124997928

C

T

intergenic

De novo

-

Yuen2017 G

BUB3

5-0025-003

chr10:
125163133-125163133

C

G

intergenic

De novo

-

Yuen2017 G

BUB3

1-0701-003

chr10:
125255353-125255353

C

T

intergenic

De novo

-

Yuen2017 G

BUB3

1-0395-003

chr10:
124961337-124961337

T

C

intergenic

De novo

-

Yuen2017 G

BUB3

1-0219-003

chr10:
124953872-124953873

AC

A

intergenic

De novo

-

Yuen2017 G

BUB3

5-0077-003

chr10:
125351724-125351724

A

G

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
	More