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Results for "GABRA1"

Variant Events: 12

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
GABRA1     14046_p1chr5:
161324370-161324370
AGexonicDe novononsynonymous SNVNM_001127648
NM_001127644
NM_001127645
NM_000806
NM_001127643
c.A1313G
c.A1313G
c.A1313G
c.A1313G
c.A1313G
p.Y438C
p.Y438C
p.Y438C
p.Y438C
p.Y438C
21.4-Fu2022 E
GABRA1     14046.p1chr5:
161324370-161324370
AGexonicDe novo, Mosaicnonsynonymous SNVNM_001127648
NM_001127644
NM_001127645
NM_000806
NM_001127643
c.A1313G
c.A1313G
c.A1313G
c.A1313G
c.A1313G
p.Y438C
p.Y438C
p.Y438C
p.Y438C
p.Y438C
21.4-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
GABRA1     1792-23269chr5:
161309585-161309585
TAexonicInheritednonsynonymous SNVNM_001127648
NM_001127644
NM_001127645
NM_000806
NM_001127643
c.T581A
c.T581A
c.T581A
c.T581A
c.T581A
p.V194D
p.V194D
p.V194D
p.V194D
p.V194D
25.9-Callaghan2019 G
GABRA1     2-1254-003chr5:
161334724-161334724
TAintergenicDe novo--Yuen2016 G
GABRA1     3-0438-000chr5:
161321588-161321588
GTintronicDe novo--Yuen2016 G
GABRA1     AU3727302chr5:
161319414-161319414
CGintronicDe novo--Yuen2017 G
GABRA1     SP0028643chr5:
161322705-161322705
GAexonicDe novononsynonymous SNVNM_001127648
NM_001127644
NM_001127645
NM_000806
NM_001127643
c.G890A
c.G890A
c.G890A
c.G890A
c.G890A
p.S297N
p.S297N
p.S297N
p.S297N
p.S297N
20.9-Antaki2022 GE
Fu2022 E
GABRA1     SP0111258chr5:
161300307-161300307
GAexonicDe novononsynonymous SNVNM_001127648
NM_001127644
NM_001127645
NM_000806
NM_001127643
c.G440A
c.G440A
c.G440A
c.G440A
c.G440A
p.R147Q
p.R147Q
p.R147Q
p.R147Q
p.R147Q
36.0-Antaki2022 GE
Fu2022 E
GABRA1     SP0038435chr5:
161322749-161322749
GAexonicDe novononsynonymous SNVNM_001127648
NM_001127644
NM_001127645
NM_000806
NM_001127643
c.G934A
c.G934A
c.G934A
c.G934A
c.G934A
p.A312T
p.A312T
p.A312T
p.A312T
p.A312T
35.0-Antaki2022 GE
Fu2022 E
GABRA1     iHART2681chr5:
161274793-161274793
GTsplicingMaternalsplicing--Ruzzo2019 G
GABRA1     AU2072302chr5:
161290971-161290971
ATintronicDe novo--Yuen2017 G
GABRA1     iHART2682chr5:
161274793-161274793
GTsplicingMaternalsplicing--Ruzzo2019 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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