Variant Results

or

Results for "TOPBP1"

Variant Events: 31

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

TOPBP1

2-1425-004

chr3:
133450092-133450092

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TOPBP1

AU2951303

chr3:
133336228-133336228

C

G

intronic

De novo

-

Yuen2017 G

TOPBP1

AU024004

chr3:
133457260-133457260

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TOPBP1

3-0543-000

chr3:
133358155-133358155

G

A

intronic

De novo

-

Trost2022 G

TOPBP1

5-0512-003

chr3:
133389658-133389658

A

T

intergenic

De novo

-

Trost2022 G

TOPBP1

7-0059-003

chr3:
133430372-133430372

A

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TOPBP1

D4S2Z-01

chr3:
133341864-133341864

C

T

intronic

De novo

-

Trost2022 G

TOPBP1

MSSNG00131-003

chr3:
133343564-133343564

C

A

intronic

De novo

-

Trost2022 G

TOPBP1

AU2951302

chr3:
133336228-133336228

C

G

intronic

De novo

-

Yuen2017 G

TOPBP1

SP0141720

chr3:
133331422-133331422

C

G

intronic

De novo

-

Trost2022 G

TOPBP1

2-1163-003

chr3:
133334548-133334548

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TOPBP1

1-0483-003

chr3:
133372232-133372234

CAT

C

exonic

De novo

frameshift deletion

NM_007027

c.877_878del

p.M293fs

-

Yuen2016 G

TOPBP1

MSSNG00341-004

chr3:
133338713-133338713

G

A

intronic

De novo

-

Trost2022 G

TOPBP1

2-1366-003

chr3:
133435778-133435778

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

TOPBP1

AU2207301

chr3:
133326040-133326040

T

TTTC

intronic

De novo

-

Trost2022 G

TOPBP1

AU2237301

chr3:
133463686-133463686

G

T

intergenic

De novo

-

Trost2022 G

TOPBP1

SP0048928

chr3:
133376626-133376626

T

G

intronic

De novo

-

Fu2022 E

TOPBP1

AU059003

chr3:
133433995-133433995

T

A

intergenic

De novo

-

Trost2022 G

TOPBP1

MSSNG00089-003

chr3:
133450536-133450536

A

C

intergenic

De novo

-

Trost2022 G

TOPBP1

REACH000001

chr3:
133398451-133398451

G

T

intergenic

De novo

-

Trost2022 G

TOPBP1

REACH000001

chr3:
133398453-133398453

A

T

intergenic

De novo

-

Trost2022 G

TOPBP1

11367.p1

chr3:
133335711-133335711

G

A

exonic

Mosaic

nonsynonymous SNV

NM_007027

c.C3818T

p.S1273L

34.0

-

Dou2017 E

TOPBP1

SP0154923

chr3:
133375695-133375695

C

A

exonic

nonsynonymous SNV

NM_007027

c.G370T

p.V124F

17.88

-

Zhou2022 GE

TOPBP1

AU4012302

chr3:
133340333-133340333

C

T

intronic

De novo

-

Yuen2017 G

TOPBP1

2-0102-004

chr3:
133328778-133328779

CA

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TOPBP1

AU4027306

chr3:
133335257-133335257

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TOPBP1

5-0041-003

chr3:
133343146-133343146

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TOPBP1

PN400128

chr3:
133336016-133336016

G

A

exonic

De novo

synonymous SNV

NM_007027

c.C3747T

p.H1249H

-

Leblond2019 E

TOPBP1

2-0063-003

chr3:
133352464-133352464

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TOPBP1

TRE_2619

chr3:
133374261-133374261

G

C

exonic

De novo

nonsynonymous SNV

NM_007027

c.C615G

p.I205M

15.01

-

Fu2022 E

TOPBP1

AU070703

chr3:
133410307-133410307

C

T

intergenic

De novo

-

Trost2022 G
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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