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Results for "BRWD1"

Variant Events: 14

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
BRWD1     1-0261-004chr21:
40664755-40664755
GAintronicDe novo--Yuen2017 G
BRWD1     2-1180-003chr21:
40558542-40558542
TGUTR3De novo--Yuen2016 G
Yuen2017 G
BRWD1     3-0209-000chr21:
40644942-40644942
CGintronicDe novo--Yuen2017 G
BRWD1     200675597@1082034667chr21:
40685356-40685356
CAintronicDe novo--Satterstrom2020 E
BRWD1     SP0056126chr21:
40650770-40650771
AGAintronicDe novo--Fu2022 E
BRWD1     SP0024132chr21:
40574224-40574224
GTintronicDe novo--Fu2022 E
BRWD1     7-0024-003chr21:
40607205-40607205
CTintronicDe novo--Yuen2017 G
BRWD1     5-0117-003chr21:
40598027-40598027
GAintronicDe novo--Yuen2017 G
BRWD1     6584chr21:
40568453-40568454
GTGexonicDe novoframeshift deletionNM_018963
NM_033656
c.6541delA
c.6541delA
p.T2181fs
p.T2181fs
--Fu2022 E
BRWD1     14292.p1chr21:
40568453-40568454
GTGexonicDe novoframeshift deletionNM_018963
NM_033656
c.6541delA
c.6541delA
p.T2181fs
p.T2181fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
BRWD1     2-0305-003chr21:
40666990-40666990
GCintronicDe novo--Yuen2017 G
BRWD1     10C110253chr21:
40641966-40641966
TCintronicDe novo--Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
BRWD1     7-0249-004chr21:
40679541-40679541
TCintronicDe novo--Yuen2017 G
BRWD1     AU058105chr21:
40580915-40580920
AAAGAAAAAintronicDe 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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