Variant Results

or

or

Results for "GABRB2"

Variant Events: 25

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

GABRB2

2-1429-003

chr5:
161043031-161043031

G

A

intergenic

De novo

-

-

Yuen2017 G

GABRB2

08C72554

chr5:
160721425-160721425

T

G

exonic

De novo

nonsynonymous SNV

NM_000813
NM_021911

c.A1088C
c.A1202C

p.H363P
p.H401P

22.1

-

Fu2022 E
Satterstrom2020 E

GABRB2

1-0253-005

chr5:
160802464-160802464

T

C

intronic

De novo

-

-

Yuen2017 G

GABRB2

2-1452-003

chr5:
160903470-160903470

C

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

GABRB2

2-1364-003

chr5:
161072818-161072818

C

T

intergenic

De novo

-

-

Yuen2017 G

GABRB2

AU011021

chr5:
160882826-160882826

G

A

intronic

De novo

-

-

Yuen2017 G

GABRB2

5-0133-003

chr5:
160974720-160974720

G

C

intronic

De novo

-

-

Yuen2017 G

GABRB2

1-0699-003

chr5:
160988298-160988298

C

G

intergenic

De novo

-

-

Yuen2017 G

GABRB2

2-1368-003

chr5:
160721057-160721057

C

A

UTR3

De novo

-

-

Yuen2016 G
Yuen2017 G

GABRB2

2-0122-004

chr5:
160833735-160833735

T

C

intronic

De novo

-

-

Yuen2017 G

GABRB2

AU005214

chr5:
160899531-160899531

G

T

intronic

De novo

-

-

Yuen2017 G

GABRB2

AU2029302

chr5:
161035064-161035064

C

A

intergenic

De novo

-

-

Yuen2017 G

GABRB2

05C43787

chr5:
160758021-160758021

C

T

exonic

De novo

nonsynonymous SNV

NM_000813
NM_021911

c.G946A
c.G946A

p.V316I
p.V316I

30.0

-

Fu2022 E
Satterstrom2020 E

GABRB2

13697_p1

chr5:
160973600-160973600

A

G

exonic

De novo

nonsynonymous SNV

NM_000813
NM_021911

c.T50C
c.T50C

p.L17S
p.L17S

15.71

-

Fu2022 E

GABRB2

13697.p1

chr5:
160973600-160973600

A

G

exonic

De novo

nonsynonymous SNV

NM_000813
NM_021911

c.T50C
c.T50C

p.L17S
p.L17S

15.71

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E

GABRB2

2-0214-003

chr5:
160945707-160945707

G

A

intronic

De novo

-

-

Yuen2017 G

GABRB2

AU1952305

chr5:
161071256-161071256

G

A

intergenic

De novo

-

-

Yuen2017 G

GABRB2

AU2029303

chr5:
161035064-161035064

C

A

intergenic

De novo

-

-

Yuen2017 G

GABRB2

2-1619-004

chr5:
161101836-161101836

T

A

intergenic

De novo

-

-

Yuen2017 G

GABRB2

Mahjani2021:126

chr5:
160763745-160763745

G

C

exonic

stopgain

NM_000813
NM_021911

c.C573G
c.C573G

p.Y191X
p.Y191X

37.0

-

Mahjani2021 E

GABRB2

1-0286-004

chr5:
160795250-160795250

A

AAAAATACACAC

intronic

De novo

-

-

Yuen2017 G

GABRB2

AU003405

chr5:
160859108-160859108

G

C

intronic

De novo

-

-

Yuen2017 G

GABRB2

12449.p1

chr5:
160979869-160979869

C

T

intergenic

De novo

-

-

Turner2016 G

GABRB2

1-0524-003

chr5:
160907789-160907789

G

T

intronic

De novo

-

-

Yuen2016 G

GABRB2

13942.p1

chr5:
160849810-160849810

G

T

intronic

De novo

-

-

Turner2016 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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