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Results for "BAZ1A"

Variant Events: 22

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
BAZ1A     MSSNG00257-005chr14:
35333152-35333152
CTintronicDe novo--Trost2022 G
BAZ1A     T2T9E-01chr14:
35335735-35335735
GAintronicDe novo--Trost2022 G
BAZ1A     AU2310301chr14:
35311443-35311443
TGintronicDe novo--Trost2022 G
BAZ1A     4-0069-003chr14:
35332158-35332158
GAintronicDe novo--Trost2022 G
BAZ1A     SSC12726chr14:
35331350-35331350
GAexonicDe novononsynonymous SNVNM_013448
NM_182648
c.C292T
c.C292T
p.R98C
p.R98C
14.588.237E-6Fu2022 E
Lim2017 E
Trost2022 G
BAZ1A     SP0146401chr14:
35222877-35222877
GAexonicnonsynonymous SNVNM_182648
NM_013448
c.C4412T
c.C4508T
p.S1471L
p.S1503L
18.63-Zhou2022 GE
BAZ1A     2-1456-003chr14:
35248099-35248099
TCintronicDe novo--Trost2022 G
BAZ1A     MSSNG00011-003chr14:
35295049-35295049
CTintronicDe novo--Trost2022 G
BAZ1A     AU3881301chr14:
35317242-35317242
TGintronicDe novo--Trost2022 G
Yuen2017 G
BAZ1A     MSSNG00424-003chr14:
35244696-35244696
GAintronicDe novo--Trost2022 G
BAZ1A     SP0118723chr14:
35222670-35222670
GAUTR3De novo11.51-Fu2022 E
Trost2022 G
BAZ1A     SP0028317chr14:
35331470-35331470
CGexonicDe novononsynonymous SNVNM_013448
NM_182648
c.G172C
c.G172C
p.G58R
p.G58R
24.2-Fu2022 E
Trost2022 G
Zhou2022 GE
BAZ1A     12664.p1chr14:
35318746-35318748
AACAintronicDe novo--Werling2018 G
BAZ1A     PN400292chr14:
35264038-35264038
TTCAexonicUnknownframeshift insertionNM_013448
NM_182648
c.1279_1280insTG
c.1279_1280insTG
p.D427fs
p.D427fs
--Leblond2019 E
BAZ1A     AU4089302chr14:
35265741-35265741
TGintronicDe novo--Trost2022 G
Yuen2017 G
BAZ1A     AU4093304chr14:
35391068-35391068
TCintergenicDe novo--Yuen2017 G
BAZ1A     AU3695303chr14:
35364023-35364023
TCintergenicDe novo--Yuen2017 G
BAZ1A     SP0061177chr14:
35262121-35262121
ACexonicDe novostopgainNM_013448
NM_182648
c.T1370G
c.T1370G
p.L457X
p.L457X
43.0-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
BAZ1A     14543.p1chr14:
35331350-35331350
GAexonicDe novononsynonymous SNVNM_013448
NM_182648
c.C292T
c.C292T
p.R98C
p.R98C
14.588.237E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
BAZ1A     AU053503chr14:
35349669-35349669
CGintergenicDe novo--Yuen2017 G
BAZ1A     DEASD_3008_001chr14:
35249429-35249429
AGexonicDe novosynonymous SNVNM_182648
NM_013448
c.T2103C
c.T2199C
p.D701D
p.D733D
--Fu2022 E
BAZ1A     1-0669-003chr14:
35305968-35305968
TAintronicDe novo--Trost2022 G
Yuen2017 G
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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