Variant Results

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or

Results for "GABRA4"

Variant Events: 14

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

GABRA4

MT_69.3

chr4:
46921881-46921881

C

T

UTR3

De novo

-

-

Trost2022 G

GABRA4

MSSNG00111-004

chr4:
46950102-46950102

T

C

intronic

De novo

-

-

Trost2022 G

GABRA4

1-0079-008

chr4:
46982342-46982342

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GABRA4

SP0060274

chr4:
46930529-46930529

G

A

exonic

De novo

stopgain

NM_001204267
NM_000809
NM_001204266

c.C1168T
c.C1378T
c.C1321T

p.R390X
p.R460X
p.R441X

40.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

GABRA4

1-0572-003

chr4:
46948702-46948702

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GABRA4

SP0123026

chr4:
46979134-46979134

A

C

exonic

De novo

nonsynonymous SNV

NM_000809
NM_001204266
NM_001204267

c.T521G
c.T464G
c.T464G

p.M174R
p.M155R
p.M155R

24.6

-

Fu2022 E

GABRA4

AU4013303

chr4:
46953501-46953501

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GABRA4

11905.p1

chr4:
46994837-46994837

G

T

intronic

Mosaic

-

-

Dou2017 E

GABRA4

2-1377-003

chr4:
46952074-46952074

G

T

intronic

De novo

-

-

Trost2022 G

GABRA4

1-1115-003

chr4:
46985939-46985939

A

G

intronic

De novo

-

-

Trost2022 G

GABRA4

2-0309-005

chr4:
47027866-47027866

T

C

intergenic

De novo

-

-

Yuen2017 G

GABRA4

1-0019-004

chr4:
46992156-46992156

A

AAC

intronic

De novo

-

-

Yuen2017 G

GABRA4

2-0006-004

chr4:
47022599-47022599

C

T

intergenic

De novo

-

-

Yuen2017 G

GABRA4

MT_109

chr4:
46930759-46930759

T

C

exonic

Maternal

nonsynonymous SNV

NM_001204267
NM_000809
NM_001204266

c.A938G
c.A1148G
c.A1091G

p.N313S
p.N383S
p.N364S

8.042

Toma2013 E

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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