Variant Results

or

Results for "GABRG2"

Variant Events: 83

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

GABRG2

2-0295-003

chr5:
161991287-161991299

TAAAATCCTCAAC

T

intergenic

De novo

-

Yuen2017 G

GABRG2

AU3712302

chr5:
162452457-162452457

A

G

intergenic

De novo

-

Yuen2017 G

GABRG2

AU3787302

chr5:
162282528-162282528

C

T

intergenic

De novo

-

Yuen2017 G

GABRG2

1-0925-003

chr5:
162303490-162303490

C

T

intergenic

De novo

-

Yuen2017 G

GABRG2

Leuven_392899

chr5:
161495049-161495049

C

A

exonic

Unknown

stopgain

NM_000816
NM_198903
NM_198904

c.C44A
c.C44A
c.C44A

p.S15X
p.S15X
p.S15X

39.0

-

Wang2020 T

GABRG2

1-0906-003

chr5:
162334461-162334461

G

A

intergenic

De novo

-

Yuen2017 G

GABRG2

AU3716301

chr5:
162057981-162057981

G

A

intergenic

De novo

-

Yuen2017 G

GABRG2

2-0081-003

chr5:
161497619-161497619

G

T

intronic

De novo

-

Yuen2017 G

GABRG2

AU043804

chr5:
162503358-162503358

C

T

intergenic

De novo

-

Yuen2017 G

GABRG2

1-0139-005

chr5:
162423845-162423845

A

G

intergenic

De novo

-

Yuen2017 G

GABRG2

AU4013302

chr5:
161900969-161900970

CA

C

intergenic

De novo

-

Yuen2017 G

GABRG2

Leuven_392901

chr5:
161495049-161495049

C

A

exonic

Unknown

stopgain

NM_000816
NM_198903
NM_198904

c.C44A
c.C44A
c.C44A

p.S15X
p.S15X
p.S15X

39.0

-

Wang2020 T

GABRG2

2-0223-004

chr5:
162669963-162669963

G

A

intergenic

De novo

-

Yuen2017 G

GABRG2

2-1297-003

chr5:
161634538-161634538

T

C

intergenic

De novo

-

Yuen2017 G

GABRG2

AU3905302

chr5:
161916419-161916419

A

G

intergenic

De novo

-

Yuen2017 G

GABRG2

2-0242-005

chr5:
162417344-162417344

G

T

intergenic

De novo

-

Yuen2017 G

GABRG2

AU1955302

chr5:
162036805-162036805

T

G

intergenic

De novo

-

Yuen2017 G

GABRG2

7-0254-004

chr5:
161826924-161826924

G

A

intergenic

De novo

-

Yuen2017 G

GABRG2

SP0047137

chr5:
161580316-161580317

TC

T

exonic

De novo

frameshift deletion

NM_000816
NM_198904
NM_198903

c.1347delC
c.1371delC
c.1491delC

p.F449fs
p.F457fs
p.F497fs

-

Fu2022 E

GABRG2

2-1364-003

chr5:
162398310-162398310

T

C

intergenic

De novo

-

Yuen2017 G

GABRG2

2-1364-003

chr5:
161641804-161641804

T

G

intergenic

De novo

-

Yuen2017 G

GABRG2

SP0081985

chr5:
161580345-161580345

G

T

exonic

De novo

nonsynonymous SNV

NM_000816
NM_198904
NM_198903

c.G1375T
c.G1399T
c.G1519T

p.V459F
p.V467F
p.V507F

19.02

-

Fu2022 E

GABRG2

AU3862305

chr5:
161779996-161779996

C

G

intergenic

De novo

-

Yuen2017 G

GABRG2

7-0167-003

chr5:
161802493-161802493

T

C

intergenic

De novo

-

Yuen2017 G

GABRG2

1-0467-003

chr5:
162566169-162566169

C

T

intergenic

De novo

-

Yuen2017 G

GABRG2

1-0481-003

chr5:
161748177-161748177

C

T

intergenic

De novo

-

Yuen2017 G

GABRG2

2-0198-005

chr5:
162375894-162375894

A

G

intergenic

De novo

-

Yuen2017 G

GABRG2

P082

chr5:
161576159-161576159

G

A

exonic

De novo

nonsynonymous SNV

NM_000816
NM_198904
NM_198903

c.G968A
c.G968A
c.G1088A

p.R323Q
p.R323Q
p.R363Q

36.0

-

Long2019 ET

GABRG2

2-1163-003

chr5:
161597837-161597837

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GABRG2

AU3782302

chr5:
162201139-162201139

A

G

intergenic

De novo

-

Yuen2017 G

GABRG2

2-1502-003

chr5:
162294393-162294393

A

G

intergenic

De novo

-

Yuen2017 G

GABRG2

AU2108302

chr5:
162217362-162217362

C

T

intergenic

De novo

-

Yuen2017 G

GABRG2

AU201A

chr5:
161576159-161576159

G

A

exonic

De novo, Unknown

nonsynonymous SNV

NM_000816
NM_198904
NM_198903

c.G968A
c.G968A
c.G1088A

p.R323Q
p.R323Q
p.R363Q

36.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T

GABRG2

2-1288-003

chr5:
161707039-161707039

C

T

intergenic

De novo

-

Yuen2017 G

GABRG2

AU0452303

chr5:
161587007-161587007

G

A

intergenic

De novo

-

Yuen2017 G

GABRG2

AU3964302

chr5:
161828954-161828960

ACAATCA

ACA

intergenic

De novo

-

Yuen2017 G

GABRG2

2-1220-003

chr5:
161861335-161861335

T

C

intergenic

De novo

-

Yuen2017 G

GABRG2

AU2029303

chr5:
161981023-161981023

A

T

intergenic

De novo

-

Yuen2017 G

GABRG2

AU3881302

chr5:
161876187-161876187

T

C

intergenic

De novo

-

Yuen2017 G

GABRG2

AU002903

chr5:
161809941-161809941

C

T

intergenic

De novo

-

Yuen2017 G

GABRG2

AU3811305

chr5:
162745417-162745417

A

T

intergenic

De novo

-

Yuen2017 G

GABRG2

AU3801301

chr5:
162571901-162571901

C

T

intergenic

De novo

-

Yuen2017 G

GABRG2

2-1475-003

chr5:
161932983-161932983

C

T

intergenic

De novo

-

Yuen2017 G

GABRG2

AU038204

chr5:
161938553-161938553

T

C

intergenic

De novo

-

Yuen2017 G

GABRG2

1-0455-004

chr5:
162322855-162322855

G

A

intergenic

De novo

-

Yuen2017 G

GABRG2

1-0570-003

chr5:
161596223-161596223

G

T

intergenic

De novo

-

Yuen2017 G

GABRG2

7-0247-003

chr5:
162472177-162472177

T

C

intergenic

De novo

-

Yuen2017 G

GABRG2

AU3727303

chr5:
162180953-162180953

G

T

intergenic

De novo

-

Yuen2017 G

GABRG2

2-0198-004

chr5:
162375894-162375894

A

G

intergenic

De novo

-

Yuen2017 G

GABRG2

14637.p1

chr5:
162776516-162776516

C

A

intergenic

De novo

-

Turner2016 G

GABRG2

1-0065-005

chr5:
161693919-161693919

T

C

intergenic

De novo

-

Yuen2017 G

GABRG2

1-0534-004

chr5:
161497035-161497035

A

G

intronic

De novo

-

Yuen2017 G

GABRG2

AU3911302

chr5:
162123011-162123011

G

A

intergenic

De novo

-

Yuen2017 G

GABRG2

2-1383-003

chr5:
162609740-162609740

T

G

intergenic

De novo

-

Yuen2017 G

GABRG2

AGRE_05C48125

chr5:
161580117-161580117

C

T

exonic

Unknown

nonsynonymous SNV

NM_000816
NM_198904
NM_198903

c.C1147T
c.C1171T
c.C1291T

p.R383C
p.R391C
p.R431C

16.6

8.243E-6

Wang2020 T

GABRG2

ACGC_M23668

chr5:
161531032-161531032

G

A

exonic

Unknown

nonsynonymous SNV

NM_000816
NM_198904
NM_198903

c.G769A
c.G769A
c.G889A

p.G257R
p.G257R
p.G297R

21.6

-

Wang2020 T

GABRG2

AGRE_04C37156

chr5:
161576165-161576165

C

T

exonic

Unknown

nonsynonymous SNV

NM_000816
NM_198904
NM_198903

c.C974T
c.C974T
c.C1094T

p.S325L
p.S325L
p.S365L

36.0

-

Wang2020 T

GABRG2

AU079104

chr5:
162265303-162265303

A

C

intergenic

De novo

-

Yuen2017 G

GABRG2

JASD_Fam0081

chr5:
161522557-161522557

G

A

exonic

De novo

nonsynonymous SNV

NM_000816
NM_198903
NM_198904

c.G316A
c.G316A
c.G316A

p.A106T
p.A106T
p.A106T

14.03

-

Takata2018 E

GABRG2

1-0560-003

chr5:
162556427-162556427

T

C

intergenic

De novo

-

Yuen2017 G

GABRG2

13143.p1

chr5:
162089847-162089847

T

C

intergenic

De novo

-

Wilfert2021 G

GABRG2

AU3713301

chr5:
161757237-161757237

T

C

intergenic

De novo

-

Yuen2017 G

GABRG2

1-0715-003

chr5:
162140418-162140418

A

G

intergenic

De novo

-

Yuen2017 G

GABRG2

AU3057302

chr5:
162594889-162594889

C

T

intergenic

De novo

-

Yuen2017 G

GABRG2

AU3716302

chr5:
162057981-162057981

G

A

intergenic

De novo

-

Yuen2017 G

GABRG2

AU3716302

chr5:
162360229-162360229

G

T

intergenic

De novo

-

Yuen2017 G

GABRG2

AU2029302

chr5:
161981023-161981023

A

T

intergenic

De novo

-

Yuen2017 G

GABRG2

SF0081985.p1

chr5:
161580345-161580345

G

T

exonic

nonsynonymous SNV

NM_000816
NM_198904
NM_198903

c.G1375T
c.G1399T
c.G1519T

p.V459F
p.V467F
p.V507F

19.02

-

Wang2020 T

GABRG2

1-0534-003

chr5:
162746593-162746593

C

A

intergenic

De novo

-

Yuen2017 G

GABRG2

SF0047137.p1

chr5:
161580316-161580317

TC

T

exonic

frameshift deletion

NM_000816
NM_198904
NM_198903

c.1347delC
c.1371delC
c.1491delC

p.F449fs
p.F457fs
p.F497fs

-

Wang2020 T

GABRG2

2-1295-003

chr5:
162302609-162302624

CAGAGAGAGAGAGAGA

CAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

GABRG2

1-0806-003

chr5:
162217466-162217466

T

C

intergenic

De novo

-

Yuen2017 G

GABRG2

1-0120-003

chr5:
161673478-161673478

A

C

intergenic

De novo

-

Yuen2017 G

GABRG2

7-0250-003

chr5:
161996614-161996615

CT

C

intergenic

De novo

-

Yuen2017 G

GABRG2

5-0128-003

chr5:
161531362-161531362

G

A

intronic

De novo

-

Yuen2017 G

GABRG2

13711.p1

chr5:
161522685-161522685

G

A

intronic

Mosaic

-

Dou2017 E

GABRG2

1-0007-003

chr5:
162770733-162770749

AAATAATAATAATAATA

AAATAATAATAATA

intergenic

De novo

-

Yuen2017 G

GABRG2

1-0522-003

chr5:
162801309-162801309

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GABRG2

2-1194-003

chr5:
161497967-161497967

G

C

intronic

De novo

-

Yuen2017 G

GABRG2

2-0063-005

chr5:
162367376-162367376

C

T

intergenic

De novo

-

Yuen2017 G

GABRG2

3-0661-000

chr5:
162779927-162779927

A

C

intergenic

De novo

-

Yuen2017 G

GABRG2

AU3984301

chr5:
162365070-162365070

A

C

intergenic

De novo

-

Yuen2017 G

GABRG2

AU031004

chr5:
162222569-162222569

C

T

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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