Variant Results

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or

Results for "BRPF1"

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

BRPF1

AU0638302

chr3:
9773111-9773111

C

T

upstream

De novo

-

-

Yuen2017 G

BRPF1

16260-27149

chr3:
9786121-9786121

G

T

exonic

Inherited

nonsynonymous SNV

NM_001003694
NM_004634

c.G2849T
c.G2831T

p.R950L
p.R944L

21.2

-

Callaghan2019 G

BRPF1

19844-31412

chr3:
9786121-9786121

G

A

exonic

nonsynonymous SNV

NM_001003694
NM_004634

c.G2849A
c.G2831A

p.R950Q
p.R944Q

20.4

-

Callaghan2019 G

BRPF1

ACGC_GX0282.p1

chr3:
9783071-9783071

C

T

exonic

Paternal

nonsynonymous SNV

NM_001003694
NM_004634

c.C1802T
c.C1802T

p.A601V
p.A601V

37.0

-

Wang2020 T

BRPF1

ACGC_HEN0176.p1

chr3:
9776150-9776150

G

A

exonic

Paternal

nonsynonymous SNV

NM_001003694
NM_004634

c.G326A
c.G326A

p.R109H
p.R109H

34.0

Wang2020 T

BRPF1

SP0073901

chr3:
9784559-9784559

G

A

intronic

De novo

-

-

Fu2022 E

BRPF1

11138.p1

chr3:
9781299-9781299

T

C

exonic

De novo, Unknown

nonsynonymous SNV

NM_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_214222

chr3:
9781122-9781122

C

T

exonic

Unknown

nonsynonymous SNV

NM_001003694
NM_004634

c.C1039T
c.C1039T

p.R347C
p.R347C

20.5

Wang2020 T

BRPF1

Uddin2014:6

chr3:
9786691-9786691

G

A

splicing

De novo

splicing

19.97

-

Uddin2014 E

BRPF1

AGRE_03C17130

chr3:
9785263-9785263

A

G

exonic

Unknown

synonymous SNV

NM_001003694
NM_004634

c.A2313G
c.A2295G

p.A771A
p.A765A

9.631

Wang2020 T

BRPF1

Mahjani2021:19

chr3:
9775909-9775909

C

G

exonic

nonsynonymous SNV

NM_001003694
NM_004634

c.C85G
c.C85G

p.R29G
p.R29G

10.7

-

Mahjani2021 E

BRPF1

SanDiego_D3P6H

chr3:
9781224-9781224

C

A

exonic

Unknown

nonsynonymous SNV

NM_001003694
NM_004634

c.C1141A
c.C1141A

p.R381S
p.R381S

26.3

-

Wang2020 T

BRPF1

SSC00075

chr3:
9781299-9781299

T

C

exonic

De novo

nonsynonymous SNV

NM_001003694
NM_004634

c.T1216C
c.T1216C

p.Y406H
p.Y406H

13.13

-

Fu2022 E
Lim2017 E

BRPF1

More2023:10

chr3:
9783082-9783082

G

A

exonic

Inherited

nonsynonymous SNV

NM_001003694
NM_004634

c.G1813A
c.G1813A

p.V605M
p.V605M

25.7

-

More2023 G

Source Variant Information

, -

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 notes	View
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