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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-15chr15:
27018841-27018841
GAexonicPaternalnonsynonymous SNVNM_021912c.C31Tp.P11S4.4280.0058Alvarez-Mora2016 T
GABRB3     DEASD_0083_001chr15:
26793067-26793068
GAGexonicUnknown, De novoframeshift deletionNM_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     M08512chr15:
26806102-26806102
GAexonicInherited, Both parentsnonsynonymous SNVNM_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
33.03.295E-5Guo2018 T
Wang2016 T
GABRB3     14061.p1chr15:
27017557-27017557
CTexonicDe novononsynonymous SNVNM_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     AU4024303chr15:
27085489-27085489
GAintergenicDe novo--Yuen2017 G
GABRB3     SSC05945chr15:
26828534-26828534
CTexonicDe novononsynonymous SNVNM_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     2-1174-006chr15:
26941533-26941533
AACTGintronicDe novo--Yuen2017 G
GABRB3     7-0130-003chr15:
26828476-26828476
CTintronicDe novo--Yuen2017 G
GABRB3     2-1184-003chr15:
26803302-26803302
TCintronicDe novo--Yuen2016 G
Yuen2017 G
GABRB3     SSC10271chr15:
27017557-27017557
CTexonicDe novononsynonymous SNVNM_000814
NM_021912
c.G232A
c.G232A
p.V78I
p.V78I
18.38-Fu2022 E
Lim2017 E
GABRB3     SP0074810chr15:
26828468-26828468
CTintronicDe novo--Fu2022 E
GABRB3     M28324chr15:
26874146-26874146
CTexonicPaternalstopgainNM_001191321c.G5Ap.W2X16.84-Wang2016 T
GABRB3     Yamamoto2019:9chr15:
26806308-26806308
AGexonicDe novononsynonymous SNVNM_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     M12379chr15:
26874146-26874146
CTexonicMaternalstopgainNM_001191321c.G5Ap.W2X16.84-Stessman2017 T
GABRB3     2-1094-005chr15:
26992871-26992871
ATintronicDe novo--Yuen2017 G
GABRB3     SAGE_BK_668_01chr15:
26806102-26806102
GAexonicUnknownnonsynonymous SNVNM_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
33.03.295E-5Wang2020 T
GABRB3     ACGC_M08512chr15:
26806102-26806102
GAexonicBoth parentsnonsynonymous SNVNM_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
33.03.295E-5Wang2020 T
GABRB3     12573.p1chr15:
26828534-26828534
CTexonicDe novononsynonymous SNVNM_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     1-0213-003chr15:
26793345-26793345
GAintronicDe novo--Yuen2016 G
GABRB3     M04483chr15:
26874146-26874146
CTexonicMaternalstopgainNM_001191321c.G5Ap.W2X16.84-Wang2016 T
GABRB3     AU3808305chr15:
26940261-26940261
GAintronicDe novo--Yuen2017 G
GABRB3     AU051504chr15:
26969049-26969049
TAintronicDe novo--Yuen2017 G
GABRB3     AU3702307chr15:
26883343-26883343
CTintronicDe novo--Yuen2017 G
GABRB3     1-0882-003chr15:
27026926-27026926
CTintergenicDe novo--Yuen2017 G
GABRB3     2-0285-004chr15:
26790762-26790762
AGUTR3De novo--Yuen2017 G
GABRB3     2-0305-003chr15:
26817982-26817982
CTintronicDe novo--Yuen2017 G
GABRB3     A220203chr15:
26793005-26793005
TCexonicDe novononsynonymous SNVNM_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.p1chr15:
26907563-26907564
TCTintronicDe novo--Wilfert2021 G
GABRB3     7-0077-003chr15:
26994227-26994227
TCintronicDe novo--Yuen2017 G
GABRB3     1-0534-004chr15:
27105582-27105582
CTintergenicDe novo--Yuen2017 G
GABRB3     20-0517250-22chr15:
26861190-26861190
AGintronicDe novo--Fu2022 E
Satterstrom2020 E
GABRB3     Iowa_185_1_a.2.1chr15:
26812810-26812810
ACexonicUnknownstopgainNM_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     1-0213-004chr15:
26793345-26793345
GAintronicDe novo--Yuen2017 G
GABRB3     2-1160-003chr15:
26893713-26893713
TCintronicDe novo--Yuen2016 G
GABRB3     Leuven_256963chr15:
26806101-26806101
CGexonicUnknownnonsynonymous SNVNM_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

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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 notesView
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