Variant Results

or

or

Results for "BRWD3"

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

BRWD3

P020

chrX:
79975160-79975160

A

G

intronic

Maternal

-

-

Long2019 ET

BRWD3

AU3053301

chrX:
80277413-80277413

A

G

intergenic

De novo

-

-

Yuen2017 G

BRWD3

13798.p1

chrX:
79945245-79945245

C

T

intronic

De novo

-

-

Krumm2015 E
Satterstrom2020 E

BRWD3

AU3302302

chrX:
80081586-80081586

C

T

intergenic

De novo

-

-

Yuen2017 G

BRWD3

AU3997301

chrX:
80243061-80243070

TTTTTTTTTG

T

intergenic

De novo

-

-

Yuen2017 G

BRWD3

AU026412

chrX:
80177621-80177632

GAAAAAAAAAAA

GAAAAAAAAAA

intergenic

De novo

-

-

Yuen2017 G

BRWD3

Hu2022:60

chrX:
80064545-80064545

A

G

intronic

Unknown

-

-

Hu2022 T

BRWD3

AU2381302

chrX:
80110514-80110514

C

G

intergenic

De novo

-

-

Yuen2017 G

BRWD3

1-0661-003

chrX:
80334130-80334135

AAATAA

AAA

intergenic

De novo

-

-

Yuen2017 G

BRWD3

AU009805

chrX:
80331320-80331320

C

G

intergenic

De novo

-

-

Yuen2017 G

BRWD3

AU2139301

chrX:
80144534-80144534

A

C

intergenic

De novo

-

-

Yuen2017 G

BRWD3

09C83070

chrX:
79999578-79999578

G

A

exonic

De novo

nonsynonymous SNV

NM_153252

c.C766T

p.P256S

24.4

-

Kosmicki2017 E
Satterstrom2020 E

BRWD3

AU3951302

chrX:
80065256-80065261

AAAAGA

AA

upstream

De novo

-

-

Yuen2017 G

BRWD3

2-1417-003

chrX:
79948981-79948981

C

T

intronic

De novo

-

-

Yuen2017 G

BRWD3

2-1644-003

chrX:
80279184-80279184

A

C

intergenic

De novo

-

-

Yuen2017 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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