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Results for "BAZ2B"

Variant Events: 55

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       MT_38.3chr2:
160400195-160400195
CTintronicDe novo--Trost2022 G
BAZ2B       1-1212-003chr2:
160406695-160406695
TCintronicDe novo--Trost2022 G
BAZ2B       MSSNG00037-003chr2:
160330617-160330617
CTintronicDe novo--Trost2022 G
BAZ2B       AM03ZF-03chr2:
160340017-160340017
GAintronicDe novo--Trost2022 G
BAZ2B       iHART1106chr2:
160206484-160206484
GCexonicPaternalstopgainNM_001289975
NM_013450
c.C4490G
c.C4598G
p.S1497X
p.S1533X
44.0-Ruzzo2019 G
BAZ2B       3-0504-000chr2:
160304175-160304175
GTintronicDe novo--Trost2022 G
BAZ2B       SSC05812chr2:
160310321-160310321
GGAintronicDe novo--Trost2022 G
BAZ2B       SSC00592chr2:
160289294-160289294
TAexonicDe novononsynonymous SNVNM_001289975
NM_013450
c.A1868T
c.A1874T
p.D623V
p.D625V
12.09-Trost2022 G
BAZ2B       iHART1108chr2:
160206484-160206484
GCexonicPaternalstopgainNM_001289975
NM_013450
c.C4490G
c.C4598G
p.S1497X
p.S1533X
44.0-Ruzzo2019 G
BAZ2B       3-0005-000chr2:
160297271-160297271
CTintronicDe novo--Trost2022 G
BAZ2B       1-0395-003chr2:
160378489-160378489
AGintronicDe novo--Yuen2017 G
BAZ2B       1-0059-003chr2:
160189931-160189931
AGintronicDe novo--Yuen2017 G
BAZ2B       7-0420-003chr2:
160445763-160445763
CTintronicDe novo--Trost2022 G
BAZ2B       3-0398-000chr2:
160447812-160447812
ATintronicDe novo--Trost2022 G
BAZ2B       1-0345-003chr2:
160413033-160413033
GTintronicDe novo--Trost2022 G
BAZ2B       7-0367-003chr2:
160419831-160419836
GTACCTGintronicDe novo--Trost2022 G
BAZ2B       SP0040514chr2:
160284597-160284597
CAintronicDe novo--Fu2022 E
BAZ2B       SP0128013chr2:
160246031-160246031
ATintronicDe novo--Fu2022 E
BAZ2B       2-1160-003chr2:
160267261-160267261
CTintronicDe novo--Yuen2016 G
Yuen2017 G
BAZ2B       SP0096681chr2:
160206292-160206292
GCexonicDe novononsynonymous SNVNM_001289975
NM_013450
c.C4682G
c.C4790G
p.P1561R
p.P1597R
10.34-Fu2022 E
Zhou2022 GE
BAZ2B       3-0246-000chr2:
160401858-160401863
TTCTCTTTCTintronicDe novo--Yuen2017 G
BAZ2B       1-0113-003chr2:
160319476-160319476
TCintronicDe novo--Yuen2016 G
BAZ2B       SP0140827chr2:
160287462-160287462
GAexonicDe novosynonymous SNVNM_001289975
NM_013450
c.C2100T
c.C2106T
p.G700G
p.G702G
--Fu2022 E
Trost2022 G
Zhou2022 GE
BAZ2B       SP0130244chr2:
160204099-160204099
CTexonicDe novosynonymous SNVNM_001289975
NM_013450
c.G5244A
c.G5352A
p.E1748E
p.E1784E
--Fu2022 E
Trost2022 G
Zhou2022 GE
BAZ2B       70524chr2:
160182250-160182250
GGTexonicDe novoframeshift insertionNM_001289975
NM_013450
c.6014dupA
c.6122dupA
p.N2005fs
p.N2041fs
--Fu2022 E
Trost2022 G
BAZ2B       mAGRE1108chr2:
160206484-160206484
GCexonicPaternalstopgainNM_001289975
NM_013450
c.C4490G
c.C4598G
p.S1497X
p.S1533X
44.0-Cirnigliaro2023 G
BAZ2B       mAGRE1106chr2:
160206484-160206484
GCexonicPaternalstopgainNM_001289975
NM_013450
c.C4490G
c.C4598G
p.S1497X
p.S1533X
44.0-Cirnigliaro2023 G
BAZ2B       SSC12602chr2:
160182250-160182250
GGTexonicframeshift insertionNM_001289975
NM_013450
c.6014dupA
c.6122dupA
p.N2005fs
p.N2041fs
--Antaki2022 GE
BAZ2B       12729.p1chr2:
160310321-160310321
GGAintronicDe novo--Satterstrom2020 E
BAZ2B       2-1501-003chr2:
160315010-160315010
GTintronicDe novo--Trost2022 G
Yuen2017 G
BAZ2B       2-1475-003chr2:
160357263-160357263
GAintronicDe novo--Yuen2017 G
BAZ2B       SP0021004chr2:
160194329-160194329
CTintronicDe novo--Fu2022 E
BAZ2B       AU3368303chr2:
160220318-160220321
AATAAAintronicDe 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
Zhou2022 GE
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
Zhou2022 GE
BAZ2B       AU4033304chr2:
160237250-160237250
CAintronicDe novo--Trost2022 G
Yuen2017 G
BAZ2B       7-0361-003chr2:
160205663-160205663
AGexonicDe novosynonymous SNVNM_001289975
NM_013450
c.T4884C
c.T4992C
p.N1628N
p.N1664N
--Trost2022 G
Zhou2022 GE
BAZ2B       AU073003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
BAZ2B       2-1318-004chr2:
160237710-160237710
TCintronicDe novo--Trost2022 G
Yuen2017 G
BAZ2B       PN400116chr2:
160204038-160204038
CTexonicUnknownnonsynonymous SNVNM_001289975
NM_013450
c.G5305A
c.G5413A
p.D1769N
p.D1805N
17.580.006Leblond2019 E
BAZ2B       AU073003chr2:
160245048-160245048
AGintronicDe novo--Trost2022 G
Yuen2017 G
BAZ2B       2-1318-004chr2:
160391258-160391258
CTintronicDe novo--Trost2022 G
Yuen2017 G
BAZ2B       1-0395-004chr2:
160378489-160378489
AGintronicDe novo--Yuen2017 G
BAZ2B       1-0755-003chr2:
160236987-160236987
TAintronicDe novo--Trost2022 G
Yuen2017 G
BAZ2B       AU4476302chr2:
160448003-160448003
GAintronicDe novo--Trost2022 G
Yuen2017 G
BAZ2B       AU3857301chr2:
160418441-160418441
GAintronicDe novo--Trost2022 G
Yuen2017 G
BAZ2B       SJD_8.4chr2:
160250838-160250838
CTintronicDe novo--Trost2022 G
BAZ2B       AU2192301chr2:
160258331-160258331
TCintronicDe novo--Trost2022 G
BAZ2B       7-0387-004chr2:
160217489-160217489
GCintronicDe novo--Trost2022 G
BAZ2B       MT_179.3chr2:
160243514-160243514
TCintronicDe novo--Trost2022 G
BAZ2B       3-0178-000chr2:
160188474-160188474
TTAintronicDe novo--Trost2022 G
BAZ2B       13694.p1chr2:
160239207-160239207
GAexonicMosaicstopgainNM_001289975
NM_013450
c.C3760T
c.C3868T
p.R1254X
p.R1290X
45.09.922E-6Krupp2017 E
BAZ2B       1-0059-003Achr2:
160189931-160189931
AGintronicDe novo--Trost2022 G
BAZ2B       REACH000345chr2:
160175978-160175978
CGUTR3De novo--Trost2022 G
Source Variant Information

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Source:

Paper alias:

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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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