Variant Results

or

or

Results for "GLRA1"

Variant Events: 21

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

GLRA1

1-0581-003

chr5:
151257214-151257214

G

C

intronic

De novo

-

-

Trost2022 G

GLRA1

7-0309-004

chr5:
151266027-151266027

A

G

intronic

De novo

-

-

Trost2022 G

GLRA1

MSSNG00214-003

chr5:
151234049-151234049

C

T

intronic

De novo

-

-

Trost2022 G

GLRA1

AU3451301

chr5:
151281741-151281741

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GLRA1

MSSNG00015-004

chr5:
151239209-151239209

C

G

intronic

De novo

-

-

Trost2022 G

GLRA1

5-0097-003

chr5:
151204226-151204226

C

G

intronic

De novo

-

-

Trost2022 G

GLRA1

MSSNG00172-003

chr5:
151207954-151207954

C

T

intronic

De novo

-

-

Trost2022 G

GLRA1

10-0006-003

chr5:
151285242-151285242

A

G

intronic

De novo

-

-

Trost2022 G

GLRA1

T2T9E-01

chr5:
151302322-151302322

A

G

intronic

De novo

-

-

Trost2022 G

GLRA1

AU058105

chr5:
151330709-151330709

T

C

intergenic

De novo

-

-

Yuen2017 G

GLRA1

10-0010-003

chr5:
151276860-151276860

C

T

intronic

De novo

-

-

Trost2022 G

GLRA1

7-0347-003

chr5:
151277534-151277534

T

C

intronic

De novo

-

-

Trost2022 G

GLRA1

MSSNG00341-004

chr5:
151270926-151270926

A

G

intronic

De novo

-

-

Trost2022 G

GLRA1

SP0085036

chr5:
151202423-151202423

G

C

exonic

De novo

nonsynonymous SNV

NM_001292000
NM_000171
NM_001146040

c.C912G
c.C1161G
c.C1185G

p.N304K
p.N387K
p.N395K

11.54

Fu2022 E
Trost2022 G
Zhou2022 GE

GLRA1

11424.p1

chr5:
151271939-151271939

C

T

exonic

synonymous SNV

NM_000171
NM_001146040

c.G117A
c.G117A

p.S39S
p.S39S

-

Zhou2022 GE

GLRA1

MSSNG00027-003

chr5:
151275243-151275243

C

A

intronic

De novo

-

-

Trost2022 G

GLRA1

2-1646-003

chr5:
151207698-151207698

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GLRA1

AU4452302

chr5:
151209073-151209073

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GLRA1

AU-12001

chr5:
151239545-151239545

G

A

exonic

nonsynonymous SNV

NM_001292000
NM_000171
NM_001146040

c.C28T
c.C277T
c.C277T

p.R10W
p.R93W
p.R93W

18.53

Doan2019 E

GLRA1

ASC_CA_150_A

chr5:
151234735-151234735

C

G

exonic

De novo

nonsynonymous SNV

NM_001292000
NM_000171
NM_001146040

c.G314C
c.G563C
c.G563C

p.G105A
p.G188A
p.G188A

26.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GLRA1

AU018010

chr5:
151322942-151322942

G

C

intergenic

De novo

-

-

Yuen2017 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
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