or
or
Exact

Results for "BAZ2B"

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
BAZ2B       iHART1106chr2:
160206484-160206484
GCexonicPaternalstopgainNM_001289975
NM_013450
c.C4490G
c.C4598G
p.S1497X
p.S1533X
44.0-Ruzzo2019 G
BAZ2B       AU4033304chr2:
160237250-160237250
CAintronicDe novo--Yuen2017 G
BAZ2B       iHART1108chr2:
160206484-160206484
GCexonicPaternalstopgainNM_001289975
NM_013450
c.C4490G
c.C4598G
p.S1497X
p.S1533X
44.0-Ruzzo2019 G
BAZ2B       1-0395-003chr2:
160378489-160378489
AGintronicDe novo--Yuen2017 G
BAZ2B       1-0059-003chr2:
160189931-160189931
AGintronicDe novo--Yuen2017 G
BAZ2B       AU073003chr2:
160252409-160252431
AAAAAACAAAAACAAAAACAAAAAAAAAACAAAAintronicDe novo--Yuen2017 G
BAZ2B       2-1160-003chr2:
160267261-160267261
CTintronicDe novo--Yuen2016 G
Yuen2017 G
BAZ2B       2-1318-004chr2:
160237710-160237710
TCintronicDe novo--Yuen2017 G
BAZ2B       3-0246-000chr2:
160401858-160401863
TTCTCTTTCTintronicDe novo--Yuen2017 G
BAZ2B       PN400116chr2:
160204038-160204038
CTexonicUnknownnonsynonymous SNVNM_001289975
NM_013450
c.G5305A
c.G5413A
p.D1769N
p.D1805N
17.580.006Leblond2019 E
BAZ2B       1-0113-003chr2:
160319476-160319476
TCintronicDe novo--Yuen2016 G
BAZ2B       AU073003chr2:
160245048-160245048
AGintronicDe novo--Yuen2017 G
BAZ2B       2-1318-004chr2:
160391258-160391258
CTintronicDe novo--Yuen2017 G
BAZ2B       1-0395-004chr2:
160378489-160378489
AGintronicDe novo--Yuen2017 G
BAZ2B       1-0755-003chr2:
160236987-160236987
TAintronicDe novo--Yuen2017 G
BAZ2B       12729.p1chr2:
160310321-160310321
GGAintronicDe novo--Satterstrom2020 E
BAZ2B       2-1501-003chr2:
160315010-160315010
GTintronicDe novo--Yuen2017 G
BAZ2B       2-1475-003chr2:
160357263-160357263
GAintronicDe novo--Yuen2017 G
BAZ2B       AU4476302chr2:
160448003-160448003
GAintronicDe novo--Yuen2017 G
BAZ2B       AU3368303chr2:
160220318-160220321
AATAAAintronicDe novo--Yuen2017 G
BAZ2B       AU3857301chr2:
160418441-160418441
GAintronicDe novo--Yuen2017 G
BAZ2B       12680.p1chr2:
160308524-160308524
GAintronicDe novo--Turner2016 G
BAZ2B       14581.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_001289975
NM_013450
NM_001289975
NM_013450
c.6014dupA
c.6122dupA
c.6013dupA
c.6121dupA
p.N2005fs
p.N2041fs
p.N2005fs
p.N2041fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
BAZ2B       11441.p1chr2:
160289294-160289294
TAexonicDe novononsynonymous SNVNM_001289975
NM_013450
c.A1868T
c.A1874T
p.D623V
p.D625V
12.09-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
BAZ2B       13694.p1chr2:
160239207-160239207
GAexonicMosaicstopgainNM_001289975
NM_013450
c.C3760T
c.C3868T
p.R1254X
p.R1290X
45.09.922E-6Krupp2017 E
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 notesView
More