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Results for "BAZ1B"

Variant Events: 11

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
BAZ1B     255-04-100812chr7:
72884688-72884688
GAexonicDe novostopgainNM_032408c.C2719Tp.R907X43.0-Satterstrom2020 E
BAZ1B     AU1542303chr7:
72902233-72902233
TCintronicDe novo--Yuen2017 G
BAZ1B     09C97170chr7:
72892108-72892108
TAexonicDe novononsynonymous SNVNM_032408c.A1683Tp.K561N15.44-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
BAZ1B     2-0145-003chr7:
72910700-72910700
GAintronicDe novo--Yuen2017 G
BAZ1B     Codina-Sola2015:ASD_13chr7:
72891652-72891654
ATTAexonicMaternalframeshift deletionNM_032408c.2137_2138delp.N713fs--Codina-Sola2015 E
BAZ1B     AC05-0017-01chr7:
72877273-72877273
TCexonicDe novosynonymous SNVNM_032408c.A3228Gp.E1076E--Lim2017 E
BAZ1B     AU3712302chr7:
72868637-72868637
GCintronicDe novo--Yuen2017 G
BAZ1B     AU060803chr7:
72877367-72877367
CAexonicDe novononsynonymous SNVNM_032408c.G3134Tp.C1045F24.2-Yuen2017 G
BAZ1B     2-1114-003chr7:
72910266-72910266
ACintronicDe novo--Yuen2017 G
BAZ1B     1-0450-003chr7:
72941702-72941702
ATintergenicDe novo--Yuen2017 G
BAZ1B     AU1521301chr7:
72879633-72879633
AGintronicDe novo--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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