Variant Results

or

Results for "GRIA1"

Variant Events: 53

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

GRIA1

1-0736-003

chr5:
153356859-153356859

G

A

intergenic

De novo

-

Yuen2017 G

GRIA1

5-0011-003

chr5:
153150031-153150031

A

C

intronic

De novo

-

Trost2022 G

GRIA1

2-1787-003

chr5:
153157627-153157627

A

C

intronic

De novo

-

Trost2022 G

GRIA1

5-0002-003

chr5:
153134638-153134638

A

G

intronic

De novo

-

Trost2022 G

GRIA1

1-1144-003

chr5:
153146952-153146952

G

C

intronic

De novo

-

Trost2022 G

GRIA1

iHART2007

chr5:
153026596-153026596

C

T

exonic

De novo

nonsynonymous SNV

NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020

c.C329T
c.C329T
c.C359T
c.C359T
c.C122T
c.C44T

p.T110M
p.T110M
p.T120M
p.T120M
p.T41M
p.T15M

25.7

-

Ruzzo2019 G

GRIA1

2-1242-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

GRIA1

SP0017629

Complex Event; expand row to view variants

De novo

nonsynonymous SNV

NM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020
NM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020

c.C1643G
c.C1883G
c.C1883G
c.C1913G
c.C1913G
c.C1676G
c.C1598G
c.C1643T
c.C1883T
c.C1883T
c.C1913T
c.C1913T
c.C1676T
c.C1598T

p.S548C
p.S628C
p.S628C
p.S638C
p.S638C
p.S559C
p.S533C
p.S548F
p.S628F
p.S628F
p.S638F
p.S638F
p.S559F
p.S533F

26.8

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

GRIA1

PN400248

chr5:
153065849-153065849

C

T

exonic

Unknown

nonsynonymous SNV

NM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020

c.C854T
c.C1094T
c.C1094T
c.C1124T
c.C1124T
c.C887T
c.C809T

p.T285M
p.T365M
p.T365M
p.T375M
p.T375M
p.T296M
p.T270M

25.1

8.245E-6

Leblond2019 E

GRIA1

Viggiano2022:22.4

chr5:
153078545-153078545

G

A

exonic

Paternal

nonsynonymous SNV

NM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020

c.G1124A
c.G1364A
c.G1364A
c.G1394A
c.G1394A
c.G1157A
c.G1079A

p.R375H
p.R455H
p.R455H
p.R465H
p.R465H
p.R386H
p.R360H

20.8

3.299E-5

Viggiano2022 GT

GRIA1

13951.p1

chr5:
153030052-153030052

G

A

exonic

De novo

nonsynonymous SNV

NM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020

c.G383A
c.G623A
c.G623A
c.G653A
c.G653A
c.G416A
c.G338A

p.R128H
p.R208H
p.R208H
p.R218H
p.R218H
p.R139H
p.R113H

29.8

9.108E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Turner2016 G
Zhou2022 GE

GRIA1

1-0059-003

chr5:
153360566-153360566

C

T

intergenic

De novo

-

Yuen2017 G

GRIA1

Viggiano2022:22.3

chr5:
153078545-153078545

G

A

exonic

Paternal

nonsynonymous SNV

NM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020

c.G1124A
c.G1364A
c.G1364A
c.G1394A
c.G1394A
c.G1157A
c.G1079A

p.R375H
p.R455H
p.R455H
p.R465H
p.R465H
p.R386H
p.R360H

20.8

3.299E-5

Viggiano2022 GT

GRIA1

DEASD_0029_001

chr5:
153144076-153144076

G

A

exonic

De novo

nonsynonymous SNV

NM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020

c.G1666A
c.G1906A
c.G1906A
c.G1936A
c.G1936A
c.G1699A
c.G1621A

p.A556T
p.A636T
p.A636T
p.A646T
p.A646T
p.A567T
p.A541T

34.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GRIA1

1-0995-003

chr5:
152882427-152882427

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIA1

2-1549-003

chr5:
153333723-153333723

A

G

intergenic

De novo

-

Yuen2017 G

GRIA1

PN400575

chr5:
153065849-153065849

C

T

exonic

Unknown

nonsynonymous SNV

NM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020

c.C854T
c.C1094T
c.C1094T
c.C1124T
c.C1124T
c.C887T
c.C809T

p.T285M
p.T365M
p.T365M
p.T375M
p.T375M
p.T296M
p.T270M

25.1

8.245E-6

Leblond2019 E

GRIA1

2-1696-003

chr5:
153340507-153340507

C

T

intergenic

De novo

-

Yuen2017 G

GRIA1

AU3874303

chr5:
153233409-153233415

CTTGTTT

CTT

intergenic

De novo

-

Yuen2017 G

GRIA1

AU4410302

chr5:
152873429-152873429

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIA1

5-0041-003

chr5:
153046808-153046808

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIA1

mAGRE2007

chr5:
153026596-153026596

C

T

exonic

De novo

nonsynonymous SNV

NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020

c.C329T
c.C329T
c.C359T
c.C359T
c.C122T
c.C44T

p.T110M
p.T110M
p.T120M
p.T120M
p.T41M
p.T15M

25.7

-

Cirnigliaro2023 G

GRIA1

162199

chr5:
153175079-153175079

G

A

exonic

De novo

nonsynonymous SNV

NM_001114183
NM_001258022
NM_001258020

c.G2314A
c.G2344A
c.G2029A

p.V772I
p.V782I
p.V677I

14.05

3.341E-5

Fu2022 E

GRIA1

2-1644-003

chr5:
153146708-153146708

G

GA

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIA1

AU072504

chr5:
152982604-152982604

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIA1

Krgovic2022:045124

chr5:
153085300-153085300

G

A

exonic

De novo

nonsynonymous SNV

NM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020

c.G1256A
c.G1496A
c.G1496A
c.G1526A
c.G1526A
c.G1289A
c.G1211A

p.R419Q
p.R499Q
p.R499Q
p.R509Q
p.R509Q
p.R430Q
p.R404Q

22.0

-

Krgovic2022 E

GRIA1

13951_p1

chr5:
153030052-153030052

G

A

exonic

De novo

nonsynonymous SNV

NM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020

c.G383A
c.G623A
c.G623A
c.G653A
c.G653A
c.G416A
c.G338A

p.R128H
p.R208H
p.R208H
p.R218H
p.R218H
p.R139H
p.R113H

29.8

9.108E-5

Fu2022 E

GRIA1

1-0148-005

chr5:
153147013-153147013

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIA1

2-1730-003

chr5:
153348350-153348350

C

T

intergenic

De novo

-

Yuen2017 G

GRIA1

1-0224-004

chr5:
153095672-153095672

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIA1

1-0753-003

chr5:
152881720-152881720

G

A

intronic

De novo

-

Trost2022 G

GRIA1

REACH000709

chr5:
152905393-152905393

G

T

intronic

De novo

-

Trost2022 G

GRIA1

AU3900301

chr5:
153187480-153187480

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIA1

1-0413-003

chr5:
152963333-152963333

C

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

GRIA1

AU2288301

chr5:
152958536-152958536

T

C

intronic

De novo

-

Trost2022 G

GRIA1

2-1195-003

chr5:
153350649-153350649

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GRIA1

MSSNG00397-003

chr5:
152966689-152966689

A

G

intronic

De novo

-

Trost2022 G

GRIA1

2-0278-003

chr5:
152945975-152945975

C

T

intronic

De novo

-

Trost2022 G

GRIA1

REACH000001

chr5:
152946302-152946302

G

T

intronic

De novo

-

Trost2022 G

GRIA1

SP0077668

chr5:
153026413-153026413

T

C

intronic

De novo

-

Fu2022 E

GRIA1

MSSNG00414-003

chr5:
152921002-152921002

C

T

intronic

De novo

-

Trost2022 G

GRIA1

3-0489-000

chr5:
152924631-152924631

C

T

intronic

De novo

-

Trost2022 G

GRIA1

1-0603-003

chr5:
152913509-152913509

G

C

intronic

De novo

-

Trost2022 G

GRIA1

3-0099-000

chr5:
152916929-152916929

G

A

intronic

De novo

-

Trost2022 G

GRIA1

MSSNG00421-007

chr5:
153067326-153067326

C

A

intronic

De novo

-

Trost2022 G

GRIA1

1-1183-003

chr5:
153103487-153103487

G

A

intronic

De novo

-

Trost2022 G

GRIA1

4-0082-004

chr5:
153061345-153061345

C

T

intronic

De novo

-

Trost2022 G

GRIA1

1-0522-003

chr5:
153226287-153226287

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GRIA1

4-0010-003

chr5:
153062129-153062129

G

A

intronic

De novo

-

Trost2022 G

GRIA1

5-5083-003

chr5:
153042962-153042962

A

G

intronic

De novo

-

Trost2022 G

GRIA1

AU059003

chr5:
153044629-153044629

A

G

intronic

De novo

-

Trost2022 G

GRIA1

MSSNG00415-003

chr5:
152998626-152998626

T

A

intronic

De novo

-

Trost2022 G

GRIA1

2-1294-004

chr5:
153036139-153036139

C

T

intronic

De novo

-

Trost2022 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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