Variant Results

or

Results for "GABBR2"

Variant Events: 31

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

GABBR2

SP0081367

chr9:
101133793-101133793

T

A

exonic

De novo

nonsynonymous SNV

NM_005458

c.A1723T

p.T575S

23.8

-

Fu2022 E

GABBR2

AU059903

chr9:
101448113-101448127

TACACACACACACAC

TACACACACACAC

intronic

De novo

-

Yuen2017 G

GABBR2

2-0063-005

chr9:
101296420-101296420

C

G

intronic

De novo

-

Yuen2017 G

GABBR2

2-0242-004

chr9:
101254041-101254041

C

T

intronic

De novo

-

Yuen2017 G

GABBR2

1-0585-003

chr9:
101161611-101161611

G

A

intronic

De novo

-

Yuen2017 G

GABBR2

1-0479-006

chr9:
101325160-101325160

T

C

intronic

De novo

-

Yuen2017 G

GABBR2

AU003405

chr9:
101358849-101358849

A

G

intronic

De novo

-

Yuen2017 G

GABBR2

Chen2021:7

chr9:
101133817-101133817

C

T

exonic

De novo

nonsynonymous SNV

NM_005458

c.G1699A

p.A567T

25.4

-

Chen2021 GET

GABBR2

2-0003-003

chr9:
101282437-101282437

A

G

intronic

De novo

-

Yuen2017 G

GABBR2

2-1244-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

GABBR2

SP0080256

chr9:
101304312-101304312

G

A

exonic

De novo

nonsynonymous SNV

NM_005458

c.C473T

p.A158V

29.4

-

Antaki2022 GE
Fu2022 E

GABBR2

1-0736-003

chr9:
101404988-101404988

T

C

intronic

De novo

-

Yuen2017 G

GABBR2

SP0074595

chr9:
101304255-101304255

G

A

exonic

De novo

nonsynonymous SNV

NM_005458

c.C530T

p.P177L

32.0

-

Antaki2022 GE
Fu2022 E

GABBR2

2-1480-003

chr9:
101490475-101490475

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GABBR2

AU4168306

chr9:
101246099-101246099

G

A

intronic

De novo

-

Yuen2017 G

GABBR2

SP0122675

chr9:
101243267-101243267

G

A

exonic

De novo

nonsynonymous SNV

NM_005458

c.C745T

p.R249W

18.65

-

Antaki2022 GE
Fu2022 E

GABBR2

2-1336-004

chr9:
101299188-101299188

G

T

intronic

De novo

-

Yuen2017 G

GABBR2

AU1940304

chr9:
101360260-101360260

C

T

intronic

De novo

-

Yuen2017 G

GABBR2

G01-GEA-306-HI

chr9:
101133817-101133817

C

T

exonic

De novo

nonsynonymous SNV

NM_005458

c.G1699A

p.A567T

25.4

-

Fu2022 E
Satterstrom2020 E

GABBR2

2-1406-003

chr9:
101231223-101231223

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GABBR2

AU065807

chr9:
101467050-101467050

T

A

intronic

De novo

-

Yuen2017 G

GABBR2

ASC_1J567

chr9:
101068477-101068477

C

T

exonic

De novo

nonsynonymous SNV

NM_005458

c.G2155A

p.V719M

25.1

8.308E-6

Fu2022 E

GABBR2

20-1111584-03

chr9:
101133816-101133816

G

A

exonic

De novo

nonsynonymous SNV

NM_005458

c.C1700T

p.A567V

36.0

-

Fu2022 E
Satterstrom2020 E

GABBR2

1-0190-003

chr9:
101450454-101450454

T

C

intronic

De novo

-

Yuen2017 G

GABBR2

2-0045-003

chr9:
101144697-101144697

G

A

intronic

De novo

-

Yuen2017 G

GABBR2

2-1094-004

chr9:
101405494-101405494

G

C

intronic

De novo

-

Yuen2017 G

GABBR2

AU3765303

chr9:
101096690-101096690

C

A

intronic

De novo

-

Yuen2017 G

GABBR2

AU3858303

chr9:
101233869-101233869

T

G

intronic

De novo

-

Yuen2017 G

GABBR2

2-1379-003

chr9:
101339215-101339215

T

A

intronic

De novo

-

Yuen2017 G

GABBR2

JASD_Fam0072

chr9:
101133817-101133817

C

T

exonic

De novo

nonsynonymous SNV

NM_005458

c.G1699A

p.A567T

25.4

-

Takata2018 E

GABBR2

1-0336-003

chr9:
101357831-101357831

C

CATG

intronic

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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