Variant Results

or

or

Results for "TOP3B"

Variant Events: 25

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

TOP3B

12323.p1

chr22:
22312975-22312975

A

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001282112
NM_001282113
NM_003935

c.T1996C
c.T1996C
c.T1996C

p.C666R
p.C666R
p.C666R

27.6

-

Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

TOP3B

A16

chr22:
22470886-22470886

C

T

intergenic

De novo

-

-

Wu2018 G

TOP3B

AU2108302

chr22:
22545296-22545296

A

G

intergenic

De novo

-

-

Yuen2017 G

TOP3B

08C74148

chr22:
22385729-22385729

A

G

intergenic

De novo

-

Satterstrom2020 E

TOP3B

1-0490-003

chr22:
22344329-22344329

C

T

intergenic

De novo

-

-

Yuen2017 G

TOP3B

HI4256

chr22:
22453410-22453410

A

C

intergenic

De novo

-

-

Satterstrom2020 E

TOP3B

08C76114

chr22:
22385750-22385750

A

C

intergenic

De novo

-

Satterstrom2020 E

TOP3B

1-0025-004

chr22:
22535994-22535994

T

C

intergenic

De novo

-

-

Yuen2017 G

TOP3B

1-0025-006

chr22:
22350286-22350286

G

A

intergenic

De novo

-

-

Yuen2017 G

TOP3B

08C76155

chr22:
22550670-22550670

G

A

intergenic

De novo

-

Satterstrom2020 E

TOP3B

1006011

chr22:
22385812-22385812

A

G

intergenic

De novo

-

-

Satterstrom2020 E

TOP3B

AU059903

chr22:
22316351-22316351

T

G

intronic

De novo

-

-

Yuen2017 G

TOP3B

AU059903

chr22:
22316356-22316356

A

G

intronic

De novo

-

-

Yuen2017 G

TOP3B

10C117850

chr22:
22385540-22385540

A

T

intergenic

De novo

-

-

Kosmicki2017 E

TOP3B

10C117850

chr22:
22550484-22550484

A

G

intergenic

De novo

-

-

Kosmicki2017 E

TOP3B

AU3903302

chr22:
22550757-22550757

A

G

intergenic

De novo

-

-

Yuen2017 G

TOP3B

10C117850

chr22:
22550490-22550490

A

G

intergenic

De novo

-

Kosmicki2017 E

TOP3B

10C117850

chr22:
22550507-22550507

A

G

intergenic

De novo

-

-

Kosmicki2017 E

TOP3B

14372.p1

chr22:
22328718-22328719

GA

G

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

TOP3B

10C117850

chr22:
22550525-22550525

A

C

intergenic

De novo

-

Kosmicki2017 E

TOP3B

10C117850

chr22:
22550532-22550532

A

G

intergenic

De novo

-

-

Kosmicki2017 E

TOP3B

10C117850

chr22:
22550537-22550537

A

T

intergenic

De novo

-

-

Kosmicki2017 E

TOP3B

2-1338-003

chr22:
22560987-22560987

T

C

intergenic

De novo

-

-

Yuen2017 G

TOP3B

08C74483

chr22:
22550361-22550361

T

C

intergenic

De novo

-

-

Satterstrom2020 E

TOP3B

AU3724301

Complex Event; expand row to view variants

De novo

-

-

Yuen2017 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
	More