Variant Results

or

Results for "GABRB3"

Variant Events: 35

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

GABRB3

Alvarez-Mora2016:ASD-15

chr15:
27018841-27018841

G

A

exonic

Paternal

nonsynonymous SNV

NM_021912

c.C31T

p.P11S

4.428

0.0058

Alvarez-Mora2016 T

GABRB3

DEASD_0083_001

chr15:
26793067-26793068

GA

G

exonic

De novo, Unknown

frameshift deletion

NM_001191320
NM_001191321
NM_000814
NM_021912
NM_001278631

c.1039delT
c.1081delT
c.1294delT
c.1294delT
c.1039delT

p.S347fs
p.S361fs
p.S432fs
p.S432fs
p.S347fs

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T

GABRB3

M08512

chr15:
26806102-26806102

G

A

exonic

Inherited, Both parents

nonsynonymous SNV

NM_001191320
NM_001191321
NM_000814
NM_021912
NM_001278631

c.C802T
c.C844T
c.C1057T
c.C1057T
c.C802T

p.R268C
p.R282C
p.R353C
p.R353C
p.R268C

33.0

3.295E-5

Guo2018 T
Wang2016 T

GABRB3

14061.p1

chr15:
27017557-27017557

C

T

exonic

De novo

nonsynonymous SNV

NM_000814
NM_021912

c.G232A
c.G232A

p.V78I
p.V78I

18.38

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G

GABRB3

AU4024303

chr15:
27085489-27085489

G

A

intergenic

De novo

-

Yuen2017 G

GABRB3

SSC05945

chr15:
26828534-26828534

C

T

exonic

De novo

nonsynonymous SNV

NM_001191320
NM_001191321
NM_000814
NM_021912
NM_001278631

c.G234A
c.G276A
c.G489A
c.G489A
c.G234A

p.M78I
p.M92I
p.M163I
p.M163I
p.M78I

17.36

-

Fu2022 E
Lim2017 E

GABRB3

2-1174-006

chr15:
26941533-26941533

A

ACTG

intronic

De novo

-

Yuen2017 G

GABRB3

7-0130-003

chr15:
26828476-26828476

C

T

intronic

De novo

-

Yuen2017 G

GABRB3

2-1184-003

chr15:
26803302-26803302

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GABRB3

SSC10271

chr15:
27017557-27017557

C

T

exonic

De novo

nonsynonymous SNV

NM_000814
NM_021912

c.G232A
c.G232A

p.V78I
p.V78I

18.38

-

Fu2022 E
Lim2017 E

GABRB3

SP0074810

chr15:
26828468-26828468

C

T

intronic

De novo

-

Fu2022 E

GABRB3

M28324

chr15:
26874146-26874146

C

T

exonic

Paternal

stopgain

NM_001191321

c.G5A

p.W2X

16.84

-

Wang2016 T

GABRB3

Yamamoto2019:9

chr15:
26806308-26806308

A

G

exonic

De novo

nonsynonymous SNV

NM_001191320
NM_001191321
NM_000814
NM_021912
NM_001278631

c.T596C
c.T638C
c.T851C
c.T851C
c.T596C

p.L199P
p.L213P
p.L284P
p.L284P
p.L199P

21.5

-

Yamamoto2019 T

GABRB3

M12379

chr15:
26874146-26874146

C

T

exonic

Maternal

stopgain

NM_001191321

c.G5A

p.W2X

16.84

-

Stessman2017 T

GABRB3

2-1094-005

chr15:
26992871-26992871

A

T

intronic

De novo

-

Yuen2017 G

GABRB3

SAGE_BK_668_01

chr15:
26806102-26806102

G

A

exonic

Unknown

nonsynonymous SNV

NM_001191320
NM_001191321
NM_000814
NM_021912
NM_001278631

c.C802T
c.C844T
c.C1057T
c.C1057T
c.C802T

p.R268C
p.R282C
p.R353C
p.R353C
p.R268C

33.0

3.295E-5

Wang2020 T

GABRB3

ACGC_M08512

chr15:
26806102-26806102

G

A

exonic

Both parents

nonsynonymous SNV

NM_001191320
NM_001191321
NM_000814
NM_021912
NM_001278631

c.C802T
c.C844T
c.C1057T
c.C1057T
c.C802T

p.R268C
p.R282C
p.R353C
p.R353C
p.R268C

33.0

3.295E-5

Wang2020 T

GABRB3

12573.p1

chr15:
26828534-26828534

C

T

exonic

De novo

nonsynonymous SNV

NM_001191320
NM_001191321
NM_000814
NM_021912
NM_001278631

c.G234A
c.G276A
c.G489A
c.G489A
c.G234A

p.M78I
p.M92I
p.M163I
p.M163I
p.M78I

17.36

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G

GABRB3

1-0213-003

chr15:
26793345-26793345

G

A

intronic

De novo

-

Yuen2016 G

GABRB3

M04483

chr15:
26874146-26874146

C

T

exonic

Maternal

stopgain

NM_001191321

c.G5A

p.W2X

16.84

-

Wang2016 T

GABRB3

AU3808305

chr15:
26940261-26940261

G

A

intronic

De novo

-

Yuen2017 G

GABRB3

AU051504

chr15:
26969049-26969049

T

A

intronic

De novo

-

Yuen2017 G

GABRB3

AU3702307

chr15:
26883343-26883343

C

T

intronic

De novo

-

Yuen2017 G

GABRB3

1-0882-003

chr15:
27026926-27026926

C

T

intergenic

De novo

-

Yuen2017 G

GABRB3

2-0285-004

chr15:
26790762-26790762

A

G

UTR3

De novo

-

Yuen2017 G

GABRB3

2-0305-003

chr15:
26817982-26817982

C

T

intronic

De novo

-

Yuen2017 G

GABRB3

A220203

chr15:
26793005-26793005

T

C

exonic

De novo

nonsynonymous SNV

NM_001191320
NM_001191321
NM_000814
NM_021912
NM_001278631

c.A1102G
c.A1144G
c.A1357G
c.A1357G
c.A1102G

p.R368G
p.R382G
p.R453G
p.R453G
p.R368G

16.89

-

Fu2022 E

GABRB3

13609.p1

chr15:
26907563-26907564

TC

T

intronic

De novo

-

Wilfert2021 G

GABRB3

7-0077-003

chr15:
26994227-26994227

T

C

intronic

De novo

-

Yuen2017 G

GABRB3

1-0534-004

chr15:
27105582-27105582

C

T

intergenic

De novo

-

Yuen2017 G

GABRB3

20-0517250-22

chr15:
26861190-26861190

A

G

intronic

De novo

-

Fu2022 E
Satterstrom2020 E

GABRB3

Iowa_185_1_a.2.1

chr15:
26812810-26812810

A

C

exonic

Unknown

stopgain

NM_001191320
NM_001191321
NM_000814
NM_021912
NM_001278631

c.T498G
c.T540G
c.T753G
c.T753G
c.T498G

p.Y166X
p.Y180X
p.Y251X
p.Y251X
p.Y166X

29.4

-

Wang2020 T

GABRB3

1-0213-004

chr15:
26793345-26793345

G

A

intronic

De novo

-

Yuen2017 G

GABRB3

2-1160-003

chr15:
26893713-26893713

T

C

intronic

De novo

-

Yuen2016 G

GABRB3

Leuven_256963

chr15:
26806101-26806101

C

G

exonic

Unknown

nonsynonymous SNV

NM_001191320
NM_001191321
NM_000814
NM_021912
NM_001278631

c.G803C
c.G845C
c.G1058C
c.G1058C
c.G803C

p.R268P
p.R282P
p.R353P
p.R353P
p.R268P

17.04

-

Wang2020 T

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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