Variant Results

or

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_p1

chr5:
161324370-161324370

A

G

exonic

De novo

nonsynonymous SNV

NM_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.p1

chr5:
161324370-161324370

A

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_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

1792-23269

chr5:
161309585-161309585

T

A

exonic

Inherited

nonsynonymous SNV

NM_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

2-1254-003

chr5:
161334724-161334724

T

A

intergenic

De novo

-

Yuen2016 G

GABRA1

3-0438-000

chr5:
161321588-161321588

G

T

intronic

De novo

-

Yuen2016 G

GABRA1

AU3727302

chr5:
161319414-161319414

C

G

intronic

De novo

-

Yuen2017 G

GABRA1

SP0028643

chr5:
161322705-161322705

G

A

exonic

De novo

nonsynonymous SNV

NM_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

SP0111258

chr5:
161300307-161300307

G

A

exonic

De novo

nonsynonymous SNV

NM_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

SP0038435

chr5:
161322749-161322749

G

A

exonic

De novo

nonsynonymous SNV

NM_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

iHART2681

chr5:
161274793-161274793

G

T

splicing

Maternal

splicing

-

Ruzzo2019 G

GABRA1

AU2072302

chr5:
161290971-161290971

A

T

intronic

De novo

-

Yuen2017 G

GABRA1

iHART2682

chr5:
161274793-161274793

G

T

splicing

Maternal

splicing

-

Ruzzo2019 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
	More