Variant Results

or

Results for "NIPBL"

Variant Events: 35

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

NIPBL

1-0674-004

chr5:
36933824-36933824

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NIPBL

AU2248301

chr5:
36913436-36913436

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NIPBL

2-1350-004

chr5:
37053400-37053402

CAT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NIPBL

Li2017:19764

chr5:
36975932-36975932

G

A

exonic

Unknown

nonsynonymous SNV

NM_015384
NM_133433

c.G923A
c.G923A

p.R308Q
p.R308Q

22.4

-

Li2017 T

NIPBL

1543-22102

chr5:
37059219-37059219

T

C

exonic

De novo

nonsynonymous SNV

NM_015384
NM_133433

c.T7637C
c.T7637C

p.L2546P
p.L2546P

23.1

-

Callaghan2019 G

NIPBL

Shi2013:2

chr5:
36985732-36985732

A

T

exonic

Inherited

nonsynonymous SNV

NM_015384
NM_133433

c.A2450T
c.A2450T

p.D817V
p.D817V

16.28

-

Shi2013 G

NIPBL

7-0175-003

chr5:
37050269-37050269

T

A

intronic

De novo

-

Yuen2017 G

NIPBL

Mahjani2021:29

chr5:
37064849-37064849

G

A

exonic

nonsynonymous SNV

NM_133433

c.G8270A

p.R2757H

18.43

-

Mahjani2021 E

NIPBL

Shi2013:1

chr5:
36985732-36985732

A

T

exonic

Inherited

nonsynonymous SNV

NM_015384
NM_133433

c.A2450T
c.A2450T

p.D817V
p.D817V

16.28

-

Shi2013 G

NIPBL

1-0446-003

chr5:
37073929-37073929

C

CCAT

intergenic

De novo

-

Yuen2017 G

NIPBL

PN400477

chr5:
37038752-37038752

C

T

exonic

Unknown

nonsynonymous SNV

NM_015384
NM_133433

c.C6020T
c.C6020T

p.T2007I
p.T2007I

26.4

-

Leblond2019 E

NIPBL

PN400371

chr5:
37038752-37038752

C

T

exonic

Unknown

nonsynonymous SNV

NM_015384
NM_133433

c.C6020T
c.C6020T

p.T2007I
p.T2007I

26.4

-

Leblond2019 E

NIPBL

2896_17au

chr5:
37059062-37059062

G

A

exonic

De novo

nonsynonymous SNV

NM_015384
NM_133433

c.G7480A
c.G7480A

p.E2494K
p.E2494K

19.39

-

Fu2022 E

NIPBL

A11

chr5:
36913187-36913187

A

G

intronic

De novo

-

Wu2018 G

NIPBL

2-1206-003

chr5:
37056094-37056094

A

T

intronic

De novo

-

Yuen2016 G

NIPBL

Li2017:20398

chr5:
37064761-37064761

G

A

exonic

Unknown

nonsynonymous SNV

NM_133433

c.G8182A

p.V2728M

14.4

-

Li2017 T

NIPBL

1-0173-004

chr5:
36997413-36997413

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NIPBL

SP0025536

chr5:
36976592-36976592

G

A

intronic

De novo

-

Fu2022 E

NIPBL

SP0046116

chr5:
37044668-37044668

T

A

intronic

De novo

-

Fu2022 E

NIPBL

2-1116-003

chr5:
37092181-37092184

CTGT

CT

intergenic

De novo

-

Yuen2017 G

NIPBL

1-0928-003

chr5:
36889676-36889676

A

G

intronic

De novo

-

Trost2022 G

NIPBL

1-0459-003

chr5:
36928293-36928293

A

G

intronic

De novo

-

Yuen2017 G

NIPBL

PN400213

chr5:
37038752-37038752

C

T

exonic

Unknown

nonsynonymous SNV

NM_015384
NM_133433

c.C6020T
c.C6020T

p.T2007I
p.T2007I

26.4

-

Leblond2019 E

NIPBL

iHART1018

chr5:
37063988-37063988

C

G

exonic

De novo

nonsynonymous SNV

NM_015384
NM_133433

c.C7957G
c.C7957G

p.L2653V
p.L2653V

22.7

-

Ruzzo2019 G

NIPBL

MSSNG00084-003

chr5:
36895617-36895617

T

G

intronic

De novo

-

Trost2022 G

NIPBL

Li2017:19708

chr5:
37064957-37064957

G

A

exonic

Unknown

nonsynonymous SNV

NM_133433

c.G8378A

p.R2793Q

15.21

-

Li2017 T

NIPBL

Lim2017:10141

chr5:
37059097-37059097

A

C

exonic

De novo

nonsynonymous SNV

NM_015384
NM_133433

c.A7515C
c.A7515C

p.K2505N
p.K2505N

14.78

-

Lim2017 E

NIPBL

1-0496-003

chr5:
37054258-37054258

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NIPBL

4-0088-003

chr5:
37041662-37041662

C

T

intronic

De novo

-

Trost2022 G

NIPBL

1-0552-003

chr5:
37073608-37073608

G

A

intergenic

De novo

-

Yuen2017 G

NIPBL

SP0203240

chr5:
37063987-37063987

A

C

exonic

De novo

synonymous SNV

NM_015384
NM_133433

c.A7956C
c.A7956C

p.S2652S
p.S2652S

9.643

-

Trost2022 G

NIPBL

1-0944-003

chr5:
37016537-37016537

A

C

intronic

De novo

-

Trost2022 G

NIPBL

5-0009-003

chr5:
37041308-37041308

T

C

intronic

De novo

-

Trost2022 G

NIPBL

7-0094-004

chr5:
36930313-36930313

G

A

intronic

De novo

-

Trost2022 G

NIPBL

1-0481-003

chr5:
36943940-36943941

GA

TT

intronic

De novo

-

Trost2022 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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