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Results for "BRD1"

Variant Events: 7

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
BRD1     11301.p1chr22:
50167925-50167925
GAexonicDe novononsynonymous SNVNM_001304808
NM_001304809
c.C3526T
c.C3133T
p.R1176C
p.R1045C
14.782.473E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
BRD1     14225.p1chr22:
50192770-50192775
GAGAACGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
BRD1     1-0158-003chr22:
50168553-50168555
GCAGintronicDe novo--Yuen2017 G
BRD1     AU3912302chr22:
50186535-50186539
GAAAAGAAAintronicDe novo--Yuen2017 G
BRD1     13577.p1chr22:
50170516-50170516
CTintronicUnknown--Werling2018 G
BRD1     1256-20693chr22:
50181377-50181378
CGCexonicframeshift deletionNM_001304808c.2517delCp.S839fs-5.98E-5Callaghan2019 G
BRD1     12515.p1chr22:
50169672-50169672
GAintronicDe novo-2.0E-4Satterstrom2020 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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