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Results for "BRD3"

Variant Events: 8

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
BRD3     08C73613chr9:
136901449-136901449
GGCCintronicDe novo--Satterstrom2020 E
BRD3     A32chr9:
136913560-136913560
CTexonicDe novononsynonymous SNVNM_007371c.G731Ap.R244Q20.68.498E-6Wu2018 G
BRD3     iHART2036chr9:
136918420-136918420
GTexonicPaternalstopgainNM_007371c.C180Ap.Y60X33.0-Ruzzo2019 G
BRD3     Li2017:18927chr9:
136913560-136913560
CTexonicDe novononsynonymous SNVNM_007371c.G731Ap.R244Q20.68.498E-6Li2017 T
BRD3     2-1107-003chr9:
136932140-136932140
AGintronicDe novo--Yuen2016 G
BRD3     iHART2039chr9:
136918420-136918420
GTexonicPaternalstopgainNM_007371c.C180Ap.Y60X33.0-Ruzzo2019 G
BRD3     AU4235302chr9:
136985113-136985113
CTintergenicDe novo--Yuen2017 G
BRD3     11263.p1chr9:
136899892-136899892
TCexonicDe novononsynonymous SNVNM_007371c.A1996Gp.K666E19.431.0E-4Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 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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