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Results for "GABRB2"

Variant Events: 24

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     13697.p1chr5:
160973600-160973600
AGexonicDe novononsynonymous SNVNM_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     2-0214-003chr5:
160945707-160945707
GAintronicDe novo--Yuen2017 G
GABRB2     2-1429-003chr5:
161043031-161043031
GAintergenicDe novo--Yuen2017 G
GABRB2     08C72554chr5:
160721425-160721425
TGexonicDe novononsynonymous SNVNM_000813
NM_021911
c.A1088C
c.A1202C
p.H363P
p.H401P
22.1-Satterstrom2020 E
GABRB2     1-0253-005chr5:
160802464-160802464
TCintronicDe novo--Yuen2017 G
GABRB2     2-1452-003chr5:
160903470-160903470
CAintronicDe novo--Yuen2016 G
Yuen2017 G
GABRB2     AU1952305chr5:
161071256-161071256
GAintergenicDe novo--Yuen2017 G
GABRB2     2-1364-003chr5:
161072818-161072818
CTintergenicDe novo--Yuen2017 G
GABRB2     AU2029303chr5:
161035064-161035064
CAintergenicDe novo--Yuen2017 G
GABRB2     2-1619-004chr5:
161101836-161101836
TAintergenicDe novo--Yuen2017 G
GABRB2     AU011021chr5:
160882826-160882826
GAintronicDe novo--Yuen2017 G
GABRB2     Mahjani2021:126chr5:
160763745-160763745
GCexonicstopgainNM_000813
NM_021911
c.C573G
c.C573G
p.Y191X
p.Y191X
37.0-Mahjani2021 E
GABRB2     1-0286-004chr5:
160795250-160795250
AAAAAATACACACintronicDe novo--Yuen2017 G
GABRB2     AU003405chr5:
160859108-160859108
GCintronicDe novo--Yuen2017 G
GABRB2     5-0133-003chr5:
160974720-160974720
GCintronicDe novo--Yuen2017 G
GABRB2     1-0699-003chr5:
160988298-160988298
CGintergenicDe novo--Yuen2017 G
GABRB2     2-1368-003chr5:
160721057-160721057
CAUTR3De novo--Yuen2016 G
Yuen2017 G
GABRB2     12449.p1chr5:
160979869-160979869
CTintergenicDe novo--Turner2016 G
GABRB2     2-0122-004chr5:
160833735-160833735
TCintronicDe novo--Yuen2017 G
GABRB2     AU005214chr5:
160899531-160899531
GTintronicDe novo--Yuen2017 G
GABRB2     AU2029302chr5:
161035064-161035064
CAintergenicDe novo--Yuen2017 G
GABRB2     1-0524-003chr5:
160907789-160907789
GTintronicDe novo--Yuen2016 G
GABRB2     05C43787chr5:
160758021-160758021
CTexonicDe novononsynonymous SNVNM_000813
NM_021911
c.G946A
c.G946A
p.V316I
p.V316I
30.0-Satterstrom2020 E
GABRB2     13942.p1chr5:
160849810-160849810
GTintronicDe novo--Turner2016 G
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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