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Results for "BRPF1"

Variant Events: 13

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
BRPF1     AU0638302chr3:
9773111-9773111
CTupstreamDe novo--Yuen2017 G
BRPF1     16260-27149chr3:
9786121-9786121
GTexonicInheritednonsynonymous SNVNM_001003694
NM_004634
c.G2849T
c.G2831T
p.R950L
p.R944L
21.2-Callaghan2019 G
BRPF1     19844-31412chr3:
9786121-9786121
GAexonicnonsynonymous SNVNM_001003694
NM_004634
c.G2849A
c.G2831A
p.R950Q
p.R944Q
20.4-Callaghan2019 G
BRPF1     ACGC_GX0282.p1chr3:
9783071-9783071
CTexonicPaternalnonsynonymous SNVNM_001003694
NM_004634
c.C1802T
c.C1802T
p.A601V
p.A601V
37.0-Wang2020 T
BRPF1     ACGC_HEN0176.p1chr3:
9776150-9776150
GAexonicPaternalnonsynonymous SNVNM_001003694
NM_004634
c.G326A
c.G326A
p.R109H
p.R109H
34.02.482E-5Wang2020 T
BRPF1     SP0073901chr3:
9784559-9784559
GAintronicDe novo--Fu2022 E
BRPF1     11138.p1chr3:
9781299-9781299
TCexonicUnknown, De novononsynonymous SNVNM_001003694
NM_004634
c.T1216C
c.T1216C
p.Y406H
p.Y406H
13.13-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
BRPF1     Leuven_214222chr3:
9781122-9781122
CTexonicUnknownnonsynonymous SNVNM_001003694
NM_004634
c.C1039T
c.C1039T
p.R347C
p.R347C
20.58.263E-6Wang2020 T
BRPF1     Uddin2014:6chr3:
9786691-9786691
GAsplicingDe novosplicing19.97-Uddin2014 E
BRPF1     AGRE_03C17130chr3:
9785263-9785263
AGexonicUnknownsynonymous SNVNM_001003694
NM_004634
c.A2313G
c.A2295G
p.A771A
p.A765A
9.6315.305E-5Wang2020 T
BRPF1     Mahjani2021:19chr3:
9775909-9775909
CGexonicnonsynonymous SNVNM_001003694
NM_004634
c.C85G
c.C85G
p.R29G
p.R29G
10.7-Mahjani2021 E
BRPF1     SanDiego_D3P6Hchr3:
9781224-9781224
CAexonicUnknownnonsynonymous SNVNM_001003694
NM_004634
c.C1141A
c.C1141A
p.R381S
p.R381S
26.3-Wang2020 T
BRPF1     SSC00075chr3:
9781299-9781299
TCexonicDe novononsynonymous SNVNM_001003694
NM_004634
c.T1216C
c.T1216C
p.Y406H
p.Y406H
13.13-Fu2022 E
Lim2017 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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