Variant Results

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Results for "BRD3"

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

BRD3

08C73613

chr9:
136901449-136901449

G

GCC

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BRD3

A32

chr9:
136913560-136913560

C

T

exonic

De novo

nonsynonymous SNV

NM_007371

c.G731A

p.R244Q

20.6

Wu2018 G

BRD3

SP0188561

chr9:
136901420-136901420

G

A

exonic

De novo

nonsynonymous SNV

NM_007371

c.C1670T

p.A557V

14.72

-

Trost2022 G

BRD3

AU2508301

chr9:
136918599-136918599

T

A

exonic

nonsynonymous SNV

NM_007371

c.A1T

p.M1L

9.386

-

Zhou2022 GE

BRD3

REACH000182

chr9:
136905599-136905599

G

A

intronic

De novo

-

-

Trost2022 G

BRD3

Li2017:18927

chr9:
136913560-136913560

C

T

exonic

De novo

nonsynonymous SNV

NM_007371

c.G731A

p.R244Q

20.6

Li2017 T

BRD3

2-1107-003

chr9:
136932140-136932140

A

G

intronic

De novo

-

-

Yuen2016 G

BRD3

AU4235302

chr9:
136985113-136985113

C

T

intergenic

De novo

-

-

Yuen2017 G

BRD3

11263.p1

chr9:
136899892-136899892

T

C

exonic

De novo

nonsynonymous SNV

NM_007371

c.A1996G

p.K666E

19.43

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BRD3

iHART2036

chr9:
136918420-136918420

G

T

exonic

Paternal

stopgain

NM_007371

c.C180A

p.Y60X

33.0

-

Ruzzo2019 G

BRD3

iHART2039

chr9:
136918420-136918420

G

T

exonic

Paternal

stopgain

NM_007371

c.C180A

p.Y60X

33.0

-

Ruzzo2019 G

BRD3

mAGRE2039

chr9:
136918420-136918420

G

T

exonic

Paternal

stopgain

NM_007371

c.C180A

p.Y60X

33.0

-

Cirnigliaro2023 G

BRD3

mAGRE2036

chr9:
136918420-136918420

G

T

exonic

Paternal

stopgain

NM_007371

c.C180A

p.Y60X

33.0

-

Cirnigliaro2023 G

BRD3

SP0082495

chr9:
136913194-136913194

C

T

intronic

De novo

-

-

Fu2022 E
Trost2022 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
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