Variant Results

or

Results for "GRIK2"

Variant Events: 134

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

GRIK2

7-0223-003

chr6:
102188006-102188006

C

T

intronic

De novo

-

Yuen2017 G

GRIK2

AU031403

chr6:
101988716-101988716

G

A

intronic

De novo

-

Yuen2017 G

GRIK2

3-0661-000

chr6:
102790382-102790382

T

C

intergenic

De novo

-

Yuen2017 G

GRIK2

2-1176-003

chr6:
104310362-104310362

G

A

intergenic

De novo

-

Yuen2017 G

GRIK2

5-0045-003

chr6:
104057067-104057067

T

C

intergenic

De novo

-

Yuen2017 G

GRIK2

7-0095-004

chr6:
102829574-102829574

T

C

intergenic

De novo

-

Yuen2017 G

GRIK2

AU031403

chr6:
103314361-103314361

T

A

intergenic

De novo

-

Yuen2017 G

GRIK2

AU073006

chr6:
103887533-103887533

G

A

intergenic

De novo

-

Yuen2017 G

GRIK2

3-0456-000

chr6:
103544912-103544912

G

A

intergenic

De novo

-

Yuen2017 G

GRIK2

AU2029301

chr6:
102029152-102029152

T

C

intronic

De novo

-

Yuen2017 G

GRIK2

AU4264302

chr6:
102083868-102083868

G

A

intronic

De novo

-

Yuen2017 G

GRIK2

13497.p1

chr6:
102247525-102247525

T

C

exonic

De novo, Mosaic Pat.

synonymous SNV

NM_001166247
NM_021956
NM_175768

c.T954C
c.T954C
c.T954C

p.T318T
p.T318T
p.T318T

-

8.241E-6

Dou2017 E
Satterstrom2020 E

GRIK2

2-1452-003

chr6:
102316443-102316443

A

T

intronic

De novo

-

Yuen2017 G

GRIK2

1-0352-005

chr6:
101972218-101972218

G

A

intronic

De novo

-

Yuen2017 G

GRIK2

7-0215-003

chr6:
103542137-103542139

GAA

GA

intergenic

De novo

-

Yuen2017 G

GRIK2

7-0192-003

chr6:
103231419-103231419

T

C

intergenic

De novo

-

Yuen2017 G

GRIK2

AU034904

chr6:
102456443-102456443

T

A

intronic

De novo

-

Yuen2017 G

GRIK2

AU3680302

chr6:
104155024-104155024

T

C

intergenic

De novo

-

Yuen2017 G

GRIK2

AU075207

chr6:
104531157-104531157

T

C

intergenic

De novo

-

Yuen2017 G

GRIK2

1-0965-003

chr6:
104208152-104208152

A

C

intergenic

De novo

-

Yuen2017 G

GRIK2

2-1296-003

chr6:
103783922-103783922

C

T

intergenic

De novo

-

Yuen2017 G

GRIK2

2-1594-003

chr6:
103270218-103270218

C

A

intergenic

De novo

-

Yuen2017 G

GRIK2

1-0113-003

chr6:
103884395-103884395

C

A

intergenic

De novo

-

Yuen2016 G

GRIK2

1-0296-003

chr6:
103654910-103654910

C

T

intergenic

De novo

-

Yuen2017 G

GRIK2

1-0495-003

chr6:
101989331-101989331

A

C

intronic

De novo

-

Yuen2017 G

GRIK2

5-0064-003

chr6:
103606784-103606784

C

T

intergenic

De novo

-

Yuen2017 G

GRIK2

PN400248

chr6:
102513772-102513772

T

G

exonic

Unknown

stopgain

NM_001166247

c.T2663G

p.L888X

43.0

-

Leblond2019 E

GRIK2

5-0030-003

chr6:
102292916-102292916

C

T

intronic

De novo

-

Yuen2017 G

GRIK2

A3

chr6:
103210203-103210203

C

T

intergenic

De novo

-

Wu2018 G

GRIK2

1-0261-004

chr6:
102949002-102949002

A

G

intergenic

De novo

-

Yuen2017 G

GRIK2

AU071204

chr6:
104494197-104494201

CATAT

CAT

intergenic

De novo

-

Yuen2017 G

GRIK2

AU3912301

chr6:
104217645-104217645

C

G

intergenic

De novo

-

Yuen2017 G

GRIK2

AU3605303

chr6:
103187506-103187506

A

G

intergenic

De novo

-

Yuen2017 G

GRIK2

AU2495302

chr6:
103842854-103842854

T

A

intergenic

De novo

-

Yuen2017 G

GRIK2

AU3811305

chr6:
102799741-102799749

GACAAACAA

GACAA

intergenic

De novo

-

Yuen2017 G

GRIK2

200675453@1082034446

chr6:
102483286-102483286

A

G

exonic

De novo

nonsynonymous SNV

NM_001166247
NM_021956
NM_175768

c.A2156G
c.A2156G
c.A2156G

p.K719R
p.K719R
p.K719R

18.57

1.652E-5

Satterstrom2020 E

GRIK2

1-0394-003

chr6:
102285225-102285225

T

C

intronic

De novo

-

Yuen2017 G

GRIK2

AU3849302

chr6:
102753292-102753292

C

T

intergenic

De novo

-

Yuen2017 G

GRIK2

1-0382-003

chr6:
103143138-103143138

G

T

intergenic

De novo

-

Yuen2017 G

GRIK2

1-0976-003

chr6:
103657230-103657230

T

C

intergenic

De novo

-

Yuen2017 G

GRIK2

2-1170-003

chr6:
103472870-103472870

G

T

intergenic

De novo

-

Yuen2017 G

GRIK2

SP0089302

chr6:
102134175-102134175

C

T

exonic

De novo

stopgain

NM_001166247
NM_021956
NM_175768

c.C898T
c.C898T
c.C898T

p.R300X
p.R300X
p.R300X

43.0

-

Antaki2022 GE
Fu2022 E

GRIK2

SP0119199

chr6:
102074464-102074464

C

T

exonic

De novo

stopgain

NM_001166247
NM_021956
NM_175768

c.C493T
c.C493T
c.C493T

p.Q165X
p.Q165X
p.Q165X

43.0

8.25E-6

Antaki2022 GE
Fu2022 E

GRIK2

D’Gama2015:5308

chr6:
102513700-102513700

A

T

exonic

Unknown

nonsynonymous SNV

NM_001166247

c.A2591T

p.Y864F

6.976

-

D’Gama2015 T

GRIK2

1-0289-003

chr6:
102882335-102882335

A

G

intergenic

De novo

-

Yuen2017 G

GRIK2

1-0142-005

chr6:
103565113-103565114

GA

G

intergenic

De novo

-

Yuen2017 G

GRIK2

AU3713301

chr6:
103402672-103402672

T

A

intergenic

De novo

-

Yuen2017 G

GRIK2

2-1454-003

chr6:
104487738-104487738

T

G

intergenic

De novo

-

Yuen2017 G

GRIK2

3-0456-000B

chr6:
103544912-103544912

G

A

intergenic

De novo

-

Yuen2017 G

GRIK2

AU2089302

chr6:
102849273-102849273

G

A

intergenic

De novo

-

Yuen2017 G

GRIK2

AU3371302

chr6:
103471923-103471923

A

T

intergenic

De novo

-

Yuen2017 G

GRIK2

1-0701-003

chr6:
102220305-102220305

A

C

intronic

De novo

-

Yuen2017 G

GRIK2

2-1397-003

chr6:
103238199-103238199

C

T

intergenic

De novo

-

Yuen2017 G

GRIK2

AU3900302

chr6:
103968238-103968238

C

T

intergenic

De novo

-

Yuen2017 G

GRIK2

AU009805

chr6:
102188857-102188857

A

G

intronic

De novo

-

Yuen2017 G

GRIK2

AU009805

chr6:
103813468-103813468

T

C

intergenic

De novo

-

Yuen2017 G

GRIK2

1-0453-003

chr6:
102508034-102508034

A

G

intronic

De novo

-

Yuen2017 G

GRIK2

1-0045-004

chr6:
101965326-101965326

C

T

intronic

De novo

-

Yuen2017 G

GRIK2

2-1318-004

chr6:
103073272-103073272

A

G

intergenic

De novo

-

Yuen2017 G

GRIK2

SP0019111

chr6:
102134128-102134128

C

T

exonic

De novo

nonsynonymous SNV

NM_001166247
NM_021956
NM_175768

c.C851T
c.C851T
c.C851T

p.T284I
p.T284I
p.T284I

9.253

-

Fu2022 E

GRIK2

2-1466-003

chr6:
102785886-102785886

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GRIK2

AU3368302

chr6:
104093570-104093570

G

A

intergenic

De novo

-

Yuen2017 G

GRIK2

AU4079302

chr6:
104363952-104363952

A

G

intergenic

De novo

-

Yuen2017 G

GRIK2

1-0591-003

chr6:
103516843-103516843

G

A

intergenic

De novo

-

Yuen2017 G

GRIK2

2-0305-003

chr6:
104099695-104099695

C

A

intergenic

De novo

-

Yuen2017 G

GRIK2

1-0126-003

chr6:
103206584-103206584

C

T

intergenic

De novo

-

Yuen2017 G

GRIK2

1-0559-004

chr6:
103386627-103386627

A

G

intergenic

De novo

-

Yuen2017 G

GRIK2

2-1328-003

chr6:
102280194-102280198

GCTAT

G

intronic

De novo

-

Yuen2016 G

GRIK2

A6

chr6:
102169386-102169386

G

C

intronic

De novo

-

Wu2018 G

GRIK2

AU3649305

chr6:
103163132-103163132

T

C

intergenic

De novo

-

Yuen2017 G

GRIK2

AU3634301

chr6:
102286988-102286988

T

G

intronic

De novo

-

Yuen2017 G

GRIK2

1-0373-003

chr6:
102466938-102466938

A

T

intronic

De novo

-

Yuen2017 G

GRIK2

2-0116-005

chr6:
103839080-103839080

A

G

intergenic

De novo

-

Yuen2017 G

GRIK2

AU2711303

chr6:
103485008-103485008

C

T

intergenic

De novo

-

Yuen2017 G

GRIK2

AU4215302

chr6:
104598870-104598870

C

T

intergenic

De novo

-

Yuen2017 G

GRIK2

1-0406-003

chr6:
103416212-103416212

A

AAAC

intergenic

De novo

-

Yuen2017 G

GRIK2

2-1362-004

chr6:
104490487-104490487

A

T

intergenic

De novo

-

Yuen2017 G

GRIK2

1-0169-003

chr6:
104490690-104490690

G

GC

intergenic

De novo

-

Yuen2017 G

GRIK2

5-0050-003

chr6:
102837928-102837928

C

T

intergenic

De novo

-

Yuen2017 G

GRIK2

AU025704

chr6:
103050679-103050679

A

G

intergenic

De novo

-

Yuen2017 G

GRIK2

AU3057301

chr6:
102601008-102601008

G

A

intergenic

De novo

-

Yuen2017 G

GRIK2

2-0145-004

chr6:
102989754-102989754

T

C

intergenic

De novo

-

Yuen2017 G

GRIK2

2-1348-003

chr6:
102443096-102443096

G

A

intronic

De novo

-

Yuen2017 G

GRIK2

1-0448-003

chr6:
103365352-103365352

C

T

intergenic

De novo

-

Yuen2017 G

GRIK2

2-1207-003

chr6:
103685966-103685966

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GRIK2

AU071804

chr6:
102752967-102752967

A

G

intergenic

De novo

-

Yuen2017 G

GRIK2

AU071804

chr6:
103452346-103452346

A

T

intergenic

De novo

-

Yuen2017 G

GRIK2

2-0132-004

chr6:
102901453-102901453

T

C

intergenic

De novo

-

Yuen2017 G

GRIK2

AU3862305

chr6:
102058156-102058156

T

C

intronic

De novo

-

Yuen2017 G

GRIK2

1-0215-006

chr6:
102551984-102551984

T

C

intergenic

De novo

-

Yuen2017 G

GRIK2

2-0285-003

chr6:
102560655-102560655

G

T

intergenic

De novo

-

Yuen2017 G

GRIK2

1-0936-003

chr6:
104066270-104066270

C

A

intergenic

De novo

-

Yuen2017 G

GRIK2

2-1506-003

chr6:
102210187-102210187

C

A

intronic

De novo

-

Yuen2017 G

GRIK2

AU047703

chr6:
101960131-101960131

T

C

intronic

De novo

-

Yuen2017 G

GRIK2

1-0367-003

chr6:
102035372-102035372

G

C

intronic

De novo

-

Yuen2017 G

GRIK2

2-1266-003

chr6:
101926514-101926514

C

T

intronic

De novo

-

Yuen2017 G

GRIK2

1-0558-003

chr6:
102735460-102735460

C

T

intergenic

De novo

-

Yuen2017 G

GRIK2

7-0141-003

chr6:
103432030-103432030

C

A

intergenic

De novo

-

Yuen2017 G

GRIK2

G01_GEA519HI

chr6:
102247420-102247420

A

G

intronic

De novo

-

Fu2022 E

GRIK2

1-0912-003

chr6:
103531346-103531346

A

G

intergenic

De novo

-

Yuen2017 G

GRIK2

1-0381-003

chr6:
102424876-102424876

A

G

intronic

De novo

-

Yuen2017 G

GRIK2

AU3912303

chr6:
103342880-103342880

T

C

intergenic

De novo

-

Yuen2017 G

GRIK2

2-0223-003

chr6:
102170140-102170140

T

C

intronic

De novo

-

Yuen2017 G

GRIK2

2-1283-004

chr6:
103206883-103206883

G

C

intergenic

De novo

-

Yuen2017 G

GRIK2

7-0012-003

chr6:
102712027-102712027

A

C

intergenic

De novo

-

Yuen2017 G

GRIK2

1-0073-003

chr6:
102172282-102172282

C

T

intronic

De novo

-

Yuen2017 G

GRIK2

AU069603

chr6:
103517078-103517078

T

G

intergenic

De novo

-

Yuen2017 G

GRIK2

AU4463303

chr6:
102875622-102875622

G

A

intergenic

De novo

-

Yuen2017 G

GRIK2

200675453_1082034446

chr6:
102483286-102483286

A

G

exonic

De novo

nonsynonymous SNV

NM_001166247
NM_021956
NM_175768

c.A2156G
c.A2156G
c.A2156G

p.K719R
p.K719R
p.K719R

18.57

1.652E-5

Fu2022 E

GRIK2

PN400102

chr6:
102513772-102513772

T

G

exonic

Unknown

stopgain

NM_001166247

c.T2663G

p.L888X

43.0

-

Leblond2019 E

GRIK2

AU024004

chr6:
103827417-103827417

G

C

intergenic

De novo

-

Yuen2017 G

GRIK2

SSC07553

chr6:
102247525-102247525

T

C

exonic

De novo

synonymous SNV

NM_001166247
NM_021956
NM_175768

c.T954C
c.T954C
c.T954C

p.T318T
p.T318T
p.T318T

-

8.241E-6

Fu2022 E

GRIK2

1-0606-003

chr6:
103550422-103550422

T

A

intergenic

De novo

-

Yuen2017 G

GRIK2

2-1280-003

chr6:
102265229-102265229

T

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GRIK2

AU075803

chr6:
102798965-102798965

A

C

intergenic

De novo

-

Yuen2017 G

GRIK2

AU1725306

chr6:
103171799-103171799

A

C

intergenic

De novo

-

Yuen2017 G

GRIK2

AU3951302

chr6:
103963549-103963549

C

G

intergenic

De novo

-

Yuen2017 G

GRIK2

AU050603

chr6:
103707439-103707439

C

T

intergenic

De novo

-

Yuen2017 G

GRIK2

AU072504

chr6:
101993141-101993141

G

C

intronic

De novo

-

Yuen2017 G

GRIK2

PN400166

chr6:
102513772-102513772

T

G

exonic

Unknown

stopgain

NM_001166247

c.T2663G

p.L888X

43.0

-

Leblond2019 E

GRIK2

2-0244-004

chr6:
103160466-103160466

A

T

intergenic

De novo

-

Yuen2017 G

GRIK2

12175.p1

chr6:
102336179-102336179

A

G

intronic

De novo

-

Turner2016 G

GRIK2

13874.p1

chr6:
102357272-102357272

A

T

intronic

De novo

-

Turner2016 G

GRIK2

AU066104

chr6:
104524291-104524293

AGG

AG

intergenic

De novo

-

Yuen2017 G

GRIK2

AU4250301

chr6:
102834794-102834794

C

T

intergenic

De novo

-

Yuen2017 G

GRIK2

13946.p1

chr6:
103968549-103968549

C

T

intergenic

De novo

-

Turner2016 G

GRIK2

AU3051303

chr6:
103795740-103795741

CA

C

intergenic

De novo

-

Yuen2017 G

GRIK2

1-0450-003

chr6:
102001388-102001388

C

A

intronic

De novo

-

Yuen2017 G

GRIK2

1-0568-003

chr6:
102025550-102025550

C

A

intronic

De novo

-

Yuen2017 G

GRIK2

AU3727302

chr6:
103920043-103920043

C

G

intergenic

De novo

-

Yuen2017 G

GRIK2

AU3811301

chr6:
102803351-102803351

C

T

intergenic

De novo

-

Yuen2017 G

GRIK2

14336.p1

chr6:
104378707-104378709

CAG

TAC

intergenic

Maternal

-

Wilfert2021 G

GRIK2

2-1379-003

chr6:
104540524-104540524

C

G

intergenic

De novo

-

Yuen2017 G

GRIK2

Chen2017:45

chr6:
102483286-102483286

A

G

exonic

De novo

nonsynonymous SNV

NM_001166247
NM_021956
NM_175768

c.A2156G
c.A2156G
c.A2156G

p.K719R
p.K719R
p.K719R

18.57

1.652E-5

Chen2017 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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