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Results for "NIPBL"

Variant Events: 24

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     A11chr5:
36913187-36913187
AGintronicDe novo--Wu2018 G
NIPBL     1-0674-004chr5:
36933824-36933824
ATintronicDe novo--Yuen2017 G
NIPBL     AU2248301chr5:
36913436-36913436
TGintronicDe novo--Yuen2017 G
NIPBL     2-1350-004chr5:
37053400-37053402
CATCintronicDe novo--Yuen2017 G
NIPBL     Li2017:19764chr5:
36975932-36975932
GAexonicUnknownnonsynonymous SNVNM_015384
NM_133433
c.G923A
c.G923A
p.R308Q
p.R308Q
22.4-Li2017 T
NIPBL     1543-22102chr5:
37059219-37059219
TCexonicDe novononsynonymous SNVNM_015384
NM_133433
c.T7637C
c.T7637C
p.L2546P
p.L2546P
23.1-Callaghan2019 G
NIPBL     2-1206-003chr5:
37056094-37056094
ATintronicDe novo--Yuen2016 G
NIPBL     Shi2013:2chr5:
36985732-36985732
ATexonicInheritednonsynonymous SNVNM_015384
NM_133433
c.A2450T
c.A2450T
p.D817V
p.D817V
16.28-Shi2013 G
NIPBL     Li2017:20398chr5:
37064761-37064761
GAexonicUnknownnonsynonymous SNVNM_133433c.G8182Ap.V2728M14.4-Li2017 T
NIPBL     1-0173-004chr5:
36997413-36997413
TCintronicDe novo--Yuen2017 G
NIPBL     7-0175-003chr5:
37050269-37050269
TAintronicDe novo--Yuen2017 G
NIPBL     Mahjani2021:29chr5:
37064849-37064849
GAexonicnonsynonymous SNVNM_133433c.G8270Ap.R2757H18.43-Mahjani2021 E
NIPBL     2-1116-003chr5:
37092181-37092184
CTGTCTintergenicDe novo--Yuen2017 G
NIPBL     1-0459-003chr5:
36928293-36928293
AGintronicDe novo--Yuen2017 G
NIPBL     PN400213chr5:
37038752-37038752
CTexonicUnknownnonsynonymous SNVNM_015384
NM_133433
c.C6020T
c.C6020T
p.T2007I
p.T2007I
26.4-Leblond2019 E
NIPBL     iHART1018chr5:
37063988-37063988
CGexonicDe novononsynonymous SNVNM_015384
NM_133433
c.C7957G
c.C7957G
p.L2653V
p.L2653V
22.7-Ruzzo2019 G
NIPBL     Shi2013:1chr5:
36985732-36985732
ATexonicInheritednonsynonymous SNVNM_015384
NM_133433
c.A2450T
c.A2450T
p.D817V
p.D817V
16.28-Shi2013 G
NIPBL     Li2017:19708chr5:
37064957-37064957
GAexonicUnknownnonsynonymous SNVNM_133433c.G8378Ap.R2793Q15.21-Li2017 T
NIPBL     Lim2017:10141chr5:
37059097-37059097
ACexonicDe novononsynonymous SNVNM_015384
NM_133433
c.A7515C
c.A7515C
p.K2505N
p.K2505N
14.78-Lim2017 E
NIPBL     1-0446-003chr5:
37073929-37073929
CCCATintergenicDe novo--Yuen2017 G
NIPBL     1-0496-003chr5:
37054258-37054258
AGintronicDe novo--Yuen2017 G
NIPBL     1-0552-003chr5:
37073608-37073608
GAintergenicDe novo--Yuen2017 G
NIPBL     PN400477chr5:
37038752-37038752
CTexonicUnknownnonsynonymous SNVNM_015384
NM_133433
c.C6020T
c.C6020T
p.T2007I
p.T2007I
26.4-Leblond2019 E
NIPBL     PN400371chr5:
37038752-37038752
CTexonicUnknownnonsynonymous SNVNM_015384
NM_133433
c.C6020T
c.C6020T
p.T2007I
p.T2007I
26.4-Leblond2019 E
Source Variant Information

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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 notesView
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