Variant Results

or

Results for "BRD1"

Variant Events: 15

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.p1

chr22:
50167925-50167925

G

A

exonic

De novo

nonsynonymous SNV

NM_001304808
NM_001304809

c.C3526T
c.C3133T

p.R1176C
p.R1045C

14.78

2.473E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G

BRD1

14225.p1

chr22:
50192770-50192775

GAGAAC

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

BRD1

AU3912302

chr22:
50186535-50186539

GAAAA

GAAA

intronic

De novo

-

Yuen2017 G

BRD1

13577.p1

chr22:
50170516-50170516

C

T

intronic

Unknown

-

Werling2018 G

BRD1

MT_6.3

chr22:
50170811-50170811

T

A

splicing

13.84

-

Antaki2022 GE

BRD1

1256-20693

chr22:
50181377-50181378

CG

C

exonic

frameshift deletion

NM_001304808

c.2517delC

p.S839fs

-

5.98E-5

Callaghan2019 G

BRD1

12515.p1

chr22:
50169672-50169672

G

A

intronic

De novo

-

2.0E-4

Satterstrom2020 E

BRD1

11301_p1

chr22:
50167925-50167925

G

A

exonic

De novo

nonsynonymous SNV

NM_001304808
NM_001304809

c.C3526T
c.C3133T

p.R1176C
p.R1045C

14.78

2.473E-5

Fu2022 E

BRD1

SSC11200

chr22:
50192770-50192775

GAGAAC

G

intronic

De novo

-

Fu2022 E

BRD1

GEA471

chr22:
50170786-50170786

C

T

exonic

De novo

nonsynonymous SNV

NM_001304808
NM_001304809

c.G3017A
c.G2624A

p.R1006Q
p.R875Q

20.7

8.336E-6

Fu2022 E

BRD1

SP0098425

chr22:
50217373-50217373

T

C

exonic

De novo

nonsynonymous SNV

NM_001304808
NM_001304809

c.A593G
c.A593G

p.H198R
p.H198R

13.42

-

Fu2022 E

BRD1

SP0005093

chr22:
50169467-50169467

C

CCCCCCCGCCCCCCGCAGCTGTGTGAGCCTCCTCAGAACT

intronic

De novo

-

Fu2022 E

BRD1

SP0086561

chr22:
50169188-50169188

G

A

intronic

De novo

-

4.4E-5

Fu2022 E

BRD1

1-0158-003

chr22:
50168553-50168555

GCA

G

intronic

De novo

-

Yuen2017 G

BRD1

SP0015245

chr22:
50169479-50169479

C

T

intronic

De novo

-

Fu2022 E

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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