Variant Results

or

Results for "BRINP3"

Variant Events: 54

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

BRINP3

MT_121.3

chr1:
190430843-190430843

T

C

intronic

De novo

-

Trost2022 G

BRINP3

1-0539-003

chr1:
190341920-190341920

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRINP3

AU055603

chr1:
190416824-190416824

A

C

intronic

De novo

-

Trost2022 G

BRINP3

AU3051302

chr1:
190249353-190249353

G

C

intronic

De novo

-

Yuen2017 G

BRINP3

1-0458-004

chr1:
190283500-190283500

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRINP3

SJD_45.3

chr1:
190399679-190399679

G

C

intronic

De novo

-

Trost2022 G

BRINP3

A21

chr1:
190183633-190183633

A

G

intronic

De novo

-

Wu2018 G

BRINP3

MSSNG00421-008

chr1:
190391841-190391841

G

A

intronic

De novo

-

Trost2022 G

BRINP3

AU2320301

chr1:
190415094-190415094

G

A

intronic

De novo

-

Trost2022 G

BRINP3

1-0350-003

chr1:
190409178-190409178

T

C

intronic

De novo

-

Trost2022 G

BRINP3

1-0494-003A

chr1:
190382345-190382345

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRINP3

2-0286-004

chr1:
190224224-190224224

C

T

intronic

De novo

-

Yuen2017 G

BRINP3

AU065304

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

BRINP3

Viggiano2022:22.3

chr1:
190067189-190067189

G

C

exonic

Maternal

nonsynonymous SNV

NM_001317188
NM_199051

c.C1954G
c.C2260G

p.P652A
p.P754A

16.65

1.653E-5

Viggiano2022 GT

BRINP3

IBS-ASD-16233-blood-wgs-ILLUMINA

chr1:
190174536-190174541

TGCAAC

T

intronic

De novo

-

Kim2024 G

BRINP3

IBS-ASD-15983-blood-wgs-ILLUMINA

chr1:
190126092-190126092

T

C

intronic

De novo

-

Kim2024 G

BRINP3

IBS-ASD-5303-blood-wgs-ILLUMINA

chr1:
190068761-190068761

A

G

intronic

De novo

-

Kim2024 G

BRINP3

Viggiano2022:22.4

chr1:
190067189-190067189

G

C

exonic

Maternal

nonsynonymous SNV

NM_001317188
NM_199051

c.C1954G
c.C2260G

p.P652A
p.P754A

16.65

1.653E-5

Viggiano2022 GT

BRINP3

1-0494-003

chr1:
190382345-190382345

C

T

intronic

De novo

-

Yuen2017 G

BRINP3

1-0565-004

chr1:
190101253-190101253

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRINP3

7-0119-003

chr1:
190297936-190297936

A

G

intronic

De novo

-

Yuen2017 G

BRINP3

IBS-ASD-16013-blood-wgs-ILLUMINA

chr1:
190403363-190403363

C

T

intronic

De novo

-

Kim2024 G

BRINP3

IBS-ASD-17253-blood-wgs-ILLUMINA

chr1:
190299773-190299774

AG

A

intronic

De novo

-

Kim2024 G

BRINP3

IBS-ASD-5453-blood-wgs-ILLUMINA

chr1:
190174845-190174845

C

T

intronic

De novo

-

Kim2024 G

BRINP3

IBS-ASD-16233-blood-wgs-ILLUMINA

chr1:
190174544-190174544

C

A

intronic

De novo

-

Kim2024 G

BRINP3

1-0099-003

chr1:
190395603-190395603

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRINP3

10-1149-003

chr1:
190067620-190067620

C

T

exonic

De novo

stopgain

NM_001317188
NM_199051

c.G1523A
c.G1829A

p.W508X
p.W610X

35.0

-

Trost2022 G
Zhou2022 GE

BRINP3

AU0146302

chr1:
190297589-190297589

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRINP3

2-1169-003

chr1:
190151946-190151946

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRINP3

AU045010

chr1:
190339172-190339172

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRINP3

2-0272-003

chr1:
190286849-190286849

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRINP3

2-1526-003

chr1:
190397149-190397149

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRINP3

AU050910

chr1:
190091737-190091737

G

A

intronic

De novo

-

Trost2022 G

BRINP3

3-0409-000

chr1:
190073346-190073346

T

G

intronic

De novo

-

Trost2022 G

BRINP3

2-1730-003

chr1:
190117567-190117567

C

CA

intronic

De novo

-

Trost2022 G

BRINP3

REACH000400

chr1:
190108351-190108351

G

A

intronic

De novo

-

Trost2022 G

BRINP3

MSSNG00257-005

chr1:
190253014-190253014

C

G

intronic

De novo

-

Trost2022 G

BRINP3

7-0387-004

chr1:
190222048-190222048

C

T

intronic

De novo

-

Trost2022 G

BRINP3

1-1201-003

chr1:
190298993-190298993

T

C

intronic

De novo

-

Trost2022 G

BRINP3

MSSNG00377-003

chr1:
190262953-190262953

T

C

intronic

De novo

-

Trost2022 G

BRINP3

AU059003

chr1:
190120789-190120789

C

A

intronic

De novo

-

Trost2022 G

BRINP3

5-5014-003

chr1:
190118582-190118582

G

T

intronic

De novo

-

Trost2022 G

BRINP3

5-5177-003

chr1:
190165500-190165500

C

T

intronic

De novo

-

Trost2022 G

BRINP3

MSSNG00101-003

chr1:
190126006-190126006

G

C

intronic

De novo

-

Trost2022 G

BRINP3

2-0103-003

chr1:
190363396-190363396

C

T

intronic

De novo

-

Trost2022 G

BRINP3

1-0368-004

chr1:
190438991-190438991

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRINP3

1-0113-003

chr1:
190179685-190179685

T

A

intronic

De novo

-

Yuen2016 G

BRINP3

1-1100-003

chr1:
190352805-190352806

CT

C

intronic

De novo

-

Trost2022 G

BRINP3

7-0224-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

BRINP3

AU055603

chr1:
190363881-190363881

T

C

intronic

De novo

-

Trost2022 G

BRINP3

MSSNG00364-004

chr1:
190313572-190313572

T

A

intronic

De novo

-

Trost2022 G

BRINP3

AU023012

chr1:
190304551-190304551

A

G

intronic

De novo

-

Trost2022 G

BRINP3

4-0062-003

chr1:
190336537-190336537

C

A

intronic

De novo

-

Trost2022 G

BRINP3

AU055603

chr1:
190318962-190318962

C

G

intronic

De novo

-

Trost2022 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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