or
or
Exact

Results for "GRIK2"

Variant Events: 128

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     7-0223-003chr6:
102188006-102188006
CTintronicDe novo--Yuen2017 G
GRIK2     AU031403chr6:
101988716-101988716
GAintronicDe novo--Yuen2017 G
GRIK2     3-0661-000chr6:
102790382-102790382
TCintergenicDe novo--Yuen2017 G
GRIK2     2-1176-003chr6:
104310362-104310362
GAintergenicDe novo--Yuen2017 G
GRIK2     5-0045-003chr6:
104057067-104057067
TCintergenicDe novo--Yuen2017 G
GRIK2     7-0095-004chr6:
102829574-102829574
TCintergenicDe novo--Yuen2017 G
GRIK2     AU031403chr6:
103314361-103314361
TAintergenicDe novo--Yuen2017 G
GRIK2     AU073006chr6:
103887533-103887533
GAintergenicDe novo--Yuen2017 G
GRIK2     3-0456-000chr6:
103544912-103544912
GAintergenicDe novo--Yuen2017 G
GRIK2     AU2029301chr6:
102029152-102029152
TCintronicDe novo--Yuen2017 G
GRIK2     AU4264302chr6:
102083868-102083868
GAintronicDe novo--Yuen2017 G
GRIK2     13497.p1chr6:
102247525-102247525
TCexonicMosaic Pat., De novosynonymous SNVNM_001166247
NM_021956
NM_175768
c.T954C
c.T954C
c.T954C
p.T318T
p.T318T
p.T318T
-8.241E-6Dou2017 E
Satterstrom2020 E
GRIK2     2-1452-003chr6:
102316443-102316443
ATintronicDe novo--Yuen2017 G
GRIK2     1-0352-005chr6:
101972218-101972218
GAintronicDe novo--Yuen2017 G
GRIK2     7-0215-003chr6:
103542137-103542139
GAAGAintergenicDe novo--Yuen2017 G
GRIK2     7-0192-003chr6:
103231419-103231419
TCintergenicDe novo--Yuen2017 G
GRIK2     AU034904chr6:
102456443-102456443
TAintronicDe novo--Yuen2017 G
GRIK2     AU3680302chr6:
104155024-104155024
TCintergenicDe novo--Yuen2017 G
GRIK2     AU075207chr6:
104531157-104531157
TCintergenicDe novo--Yuen2017 G
GRIK2     1-0965-003chr6:
104208152-104208152
ACintergenicDe novo--Yuen2017 G
GRIK2     2-1296-003chr6:
103783922-103783922
CTintergenicDe novo--Yuen2017 G
GRIK2     2-1594-003chr6:
103270218-103270218
CAintergenicDe novo--Yuen2017 G
GRIK2     1-0113-003chr6:
103884395-103884395
CAintergenicDe novo--Yuen2016 G
GRIK2     1-0296-003chr6:
103654910-103654910
CTintergenicDe novo--Yuen2017 G
GRIK2     1-0495-003chr6:
101989331-101989331
ACintronicDe novo--Yuen2017 G
GRIK2     5-0064-003chr6:
103606784-103606784
CTintergenicDe novo--Yuen2017 G
GRIK2     PN400248chr6:
102513772-102513772
TGexonicUnknownstopgainNM_001166247c.T2663Gp.L888X43.0-Leblond2019 E
GRIK2     5-0030-003chr6:
102292916-102292916
CTintronicDe novo--Yuen2017 G
GRIK2     A3chr6:
103210203-103210203
CTintergenicDe novo--Wu2018 G
GRIK2     1-0261-004chr6:
102949002-102949002
AGintergenicDe novo--Yuen2017 G
GRIK2     AU071204chr6:
104494197-104494201
CATATCATintergenicDe novo--Yuen2017 G
GRIK2     AU3912301chr6:
104217645-104217645
CGintergenicDe novo--Yuen2017 G
GRIK2     AU3605303chr6:
103187506-103187506
AGintergenicDe novo--Yuen2017 G
GRIK2     AU2495302chr6:
103842854-103842854
TAintergenicDe novo--Yuen2017 G
GRIK2     AU3811305chr6:
102799741-102799749
GACAAACAAGACAAintergenicDe novo--Yuen2017 G
GRIK2     200675453@1082034446chr6:
102483286-102483286
AGexonicDe novononsynonymous SNVNM_001166247
NM_021956
NM_175768
c.A2156G
c.A2156G
c.A2156G
p.K719R
p.K719R
p.K719R
18.571.652E-5Satterstrom2020 E
GRIK2     1-0394-003chr6:
102285225-102285225
TCintronicDe novo--Yuen2017 G
GRIK2     AU3849302chr6:
102753292-102753292
CTintergenicDe novo--Yuen2017 G
GRIK2     1-0382-003chr6:
103143138-103143138
GTintergenicDe novo--Yuen2017 G
GRIK2     1-0976-003chr6:
103657230-103657230
TCintergenicDe novo--Yuen2017 G
GRIK2     2-1170-003chr6:
103472870-103472870
GTintergenicDe novo--Yuen2017 G
GRIK2     D’Gama2015:5308chr6:
102513700-102513700
ATexonicUnknownnonsynonymous SNVNM_001166247c.A2591Tp.Y864F6.976-D’Gama2015 T
GRIK2     1-0289-003chr6:
102882335-102882335
AGintergenicDe novo--Yuen2017 G
GRIK2     1-0142-005chr6:
103565113-103565114
GAGintergenicDe novo--Yuen2017 G
GRIK2     AU3713301chr6:
103402672-103402672
TAintergenicDe novo--Yuen2017 G
GRIK2     2-1454-003chr6:
104487738-104487738
TGintergenicDe novo--Yuen2017 G
GRIK2     3-0456-000Bchr6:
103544912-103544912
GAintergenicDe novo--Yuen2017 G
GRIK2     AU2089302chr6:
102849273-102849273
GAintergenicDe novo--Yuen2017 G
GRIK2     AU3371302chr6:
103471923-103471923
ATintergenicDe novo--Yuen2017 G
GRIK2     1-0701-003chr6:
102220305-102220305
ACintronicDe novo--Yuen2017 G
GRIK2     2-1397-003chr6:
103238199-103238199
CTintergenicDe novo--Yuen2017 G
GRIK2     AU3900302chr6:
103968238-103968238
CTintergenicDe novo--Yuen2017 G
GRIK2     AU009805chr6:
102188857-102188857
AGintronicDe novo--Yuen2017 G
GRIK2     AU009805chr6:
103813468-103813468
TCintergenicDe novo--Yuen2017 G
GRIK2     1-0453-003chr6:
102508034-102508034
AGintronicDe novo--Yuen2017 G
GRIK2     1-0045-004chr6:
101965326-101965326
CTintronicDe novo--Yuen2017 G
GRIK2     2-1318-004chr6:
103073272-103073272
AGintergenicDe novo--Yuen2017 G
GRIK2     2-1466-003chr6:
102785886-102785886
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
GRIK2     AU3368302chr6:
104093570-104093570
GAintergenicDe novo--Yuen2017 G
GRIK2     AU4079302chr6:
104363952-104363952
AGintergenicDe novo--Yuen2017 G
GRIK2     1-0591-003chr6:
103516843-103516843
GAintergenicDe novo--Yuen2017 G
GRIK2     2-0305-003chr6:
104099695-104099695
CAintergenicDe novo--Yuen2017 G
GRIK2     1-0126-003chr6:
103206584-103206584
CTintergenicDe novo--Yuen2017 G
GRIK2     1-0559-004chr6:
103386627-103386627
AGintergenicDe novo--Yuen2017 G
GRIK2     2-1328-003chr6:
102280194-102280198
GCTATGintronicDe novo--Yuen2016 G
GRIK2     A6chr6:
102169386-102169386
GCintronicDe novo--Wu2018 G
GRIK2     AU3649305chr6:
103163132-103163132
TCintergenicDe novo--Yuen2017 G
GRIK2     AU3634301chr6:
102286988-102286988
TGintronicDe novo--Yuen2017 G
GRIK2     1-0373-003chr6:
102466938-102466938
ATintronicDe novo--Yuen2017 G
GRIK2     2-0116-005chr6:
103839080-103839080
AGintergenicDe novo--Yuen2017 G
GRIK2     AU2711303chr6:
103485008-103485008
CTintergenicDe novo--Yuen2017 G
GRIK2     AU4215302chr6:
104598870-104598870
CTintergenicDe novo--Yuen2017 G
GRIK2     1-0406-003chr6:
103416212-103416212
AAAACintergenicDe novo--Yuen2017 G
GRIK2     2-1362-004chr6:
104490487-104490487
ATintergenicDe novo--Yuen2017 G
GRIK2     1-0169-003chr6:
104490690-104490690
GGCintergenicDe novo--Yuen2017 G
GRIK2     5-0050-003chr6:
102837928-102837928
CTintergenicDe novo--Yuen2017 G
GRIK2     AU025704chr6:
103050679-103050679
AGintergenicDe novo--Yuen2017 G
GRIK2     AU3057301chr6:
102601008-102601008
GAintergenicDe novo--Yuen2017 G
GRIK2     2-0145-004chr6:
102989754-102989754
TCintergenicDe novo--Yuen2017 G
GRIK2     2-1348-003chr6:
102443096-102443096
GAintronicDe novo--Yuen2017 G
GRIK2     1-0448-003chr6:
103365352-103365352
CTintergenicDe novo--Yuen2017 G
GRIK2     2-1207-003chr6:
103685966-103685966
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
GRIK2     AU071804chr6:
102752967-102752967
AGintergenicDe novo--Yuen2017 G
GRIK2     AU071804chr6:
103452346-103452346
ATintergenicDe novo--Yuen2017 G
GRIK2     2-0132-004chr6:
102901453-102901453
TCintergenicDe novo--Yuen2017 G
GRIK2     AU3862305chr6:
102058156-102058156
TCintronicDe novo--Yuen2017 G
GRIK2     1-0215-006chr6:
102551984-102551984
TCintergenicDe novo--Yuen2017 G
GRIK2     2-0285-003chr6:
102560655-102560655
GTintergenicDe novo--Yuen2017 G
GRIK2     1-0936-003chr6:
104066270-104066270
CAintergenicDe novo--Yuen2017 G
GRIK2     2-1506-003chr6:
102210187-102210187
CAintronicDe novo--Yuen2017 G
GRIK2     AU047703chr6:
101960131-101960131
TCintronicDe novo--Yuen2017 G
GRIK2     1-0367-003chr6:
102035372-102035372
GCintronicDe novo--Yuen2017 G
GRIK2     2-1266-003chr6:
101926514-101926514
CTintronicDe novo--Yuen2017 G
GRIK2     1-0558-003chr6:
102735460-102735460
CTintergenicDe novo--Yuen2017 G
GRIK2     7-0141-003chr6:
103432030-103432030
CAintergenicDe novo--Yuen2017 G
GRIK2     1-0912-003chr6:
103531346-103531346
AGintergenicDe novo--Yuen2017 G
GRIK2     1-0381-003chr6:
102424876-102424876
AGintronicDe novo--Yuen2017 G
GRIK2     AU3912303chr6:
103342880-103342880
TCintergenicDe novo--Yuen2017 G
GRIK2     2-0223-003chr6:
102170140-102170140
TCintronicDe novo--Yuen2017 G
GRIK2     2-1283-004chr6:
103206883-103206883
GCintergenicDe novo--Yuen2017 G
GRIK2     7-0012-003chr6:
102712027-102712027
ACintergenicDe novo--Yuen2017 G
GRIK2     1-0073-003chr6:
102172282-102172282
CTintronicDe novo--Yuen2017 G
GRIK2     AU069603chr6:
103517078-103517078
TGintergenicDe novo--Yuen2017 G
GRIK2     AU4463303chr6:
102875622-102875622
GAintergenicDe novo--Yuen2017 G
GRIK2     PN400102chr6:
102513772-102513772
TGexonicUnknownstopgainNM_001166247c.T2663Gp.L888X43.0-Leblond2019 E
GRIK2     AU024004chr6:
103827417-103827417
GCintergenicDe novo--Yuen2017 G
GRIK2     1-0606-003chr6:
103550422-103550422
TAintergenicDe novo--Yuen2017 G
GRIK2     2-1280-003chr6:
102265229-102265229
TAintronicDe novo--Yuen2016 G
Yuen2017 G
GRIK2     AU075803chr6:
102798965-102798965
ACintergenicDe novo--Yuen2017 G
GRIK2     AU1725306chr6:
103171799-103171799
ACintergenicDe novo--Yuen2017 G
GRIK2     AU3951302chr6:
103963549-103963549
CGintergenicDe novo--Yuen2017 G
GRIK2     AU050603chr6:
103707439-103707439
CTintergenicDe novo--Yuen2017 G
GRIK2     AU072504chr6:
101993141-101993141
GCintronicDe novo--Yuen2017 G
GRIK2     PN400166chr6:
102513772-102513772
TGexonicUnknownstopgainNM_001166247c.T2663Gp.L888X43.0-Leblond2019 E
GRIK2     2-0244-004chr6:
103160466-103160466
ATintergenicDe novo--Yuen2017 G
GRIK2     12175.p1chr6:
102336179-102336179
AGintronicDe novo--Turner2016 G
GRIK2     13874.p1chr6:
102357272-102357272
ATintronicDe novo--Turner2016 G
GRIK2     AU066104chr6:
104524291-104524293
AGGAGintergenicDe novo--Yuen2017 G
GRIK2     AU4250301chr6:
102834794-102834794
CTintergenicDe novo--Yuen2017 G
GRIK2     13946.p1chr6:
103968549-103968549
CTintergenicDe novo--Turner2016 G
GRIK2     AU3051303chr6:
103795740-103795741
CACintergenicDe novo--Yuen2017 G
GRIK2     1-0450-003chr6:
102001388-102001388
CAintronicDe novo--Yuen2017 G
GRIK2     1-0568-003chr6:
102025550-102025550
CAintronicDe novo--Yuen2017 G
GRIK2     AU3727302chr6:
103920043-103920043
CGintergenicDe novo--Yuen2017 G
GRIK2     AU3811301chr6:
102803351-102803351
CTintergenicDe novo--Yuen2017 G
GRIK2     14336.p1chr6:
104378707-104378709
CAGTACintergenicMaternal--Wilfert2021 G
GRIK2     2-1379-003chr6:
104540524-104540524
CGintergenicDe novo--Yuen2017 G
GRIK2     Chen2017:45chr6:
102483286-102483286
AGexonicDe novononsynonymous SNVNM_001166247
NM_021956
NM_175768
c.A2156G
c.A2156G
c.A2156G
p.K719R
p.K719R
p.K719R
18.571.652E-5Chen2017 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 notesView
More