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Results for "GRIK3"

Variant Events: 39

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
GRIK3     3-0428-000chr1:
37547490-37547490
GAintergenicDe novo--Yuen2017 G
GRIK3     1-0674-003chr1:
37387961-37387961
TCintronicDe novo--Trost2022 G
Yuen2017 G
GRIK3     3-0169-000chr1:
37446041-37446043
ACTAintronicDe novo--Trost2022 G
Yuen2016 G
GRIK3     5-0146-003chr1:
37596353-37596353
CTintergenicDe novo--Yuen2017 G
GRIK3     AU2863302chr1:
37514215-37514215
ACintergenicDe novo--Yuen2017 G
GRIK3     AU076508chr1:
37582438-37582438
TCintergenicDe novo--Yuen2017 G
GRIK3     AU2863303chr1:
37532646-37532646
AGintergenicDe novo--Yuen2017 G
GRIK3     AU4412302chr1:
37332356-37332356
GAintronicDe novo--Yuen2017 G
GRIK3     1-0153-005chr1:
37374009-37374009
CAintronicDe novo--Yuen2017 G
GRIK3     1-0568-003chr1:
37593938-37593938
ACintergenicDe novo--Yuen2017 G
GRIK3     2-1242-003chr1:
37423032-37423032
CAintronicDe novo--Yuen2017 G
GRIK3     3-0752-000chr1:
37353260-37353260
GAintronicDe novo--Trost2022 G
GRIK3     SP0192192chr1:
37307394-37307394
GTexonicDe novostopgainNM_000831c.C1473Ap.Y491X20.6-Trost2022 G
GRIK3     1-0153-005Achr1:
37374009-37374009
CAintronicDe novo--Trost2022 G
GRIK3     3-0630-000chr1:
37359993-37359993
TCintronicDe novo--Trost2022 G
GRIK3     AU012804chr1:
37297279-37297279
TGintronicDe novo--Trost2022 G
Yuen2017 G
GRIK3     1-1133-003chr1:
37275801-37275801
CTintronicDe novo--Trost2022 G
GRIK3     4-0062-003chr1:
37468486-37468488
CCCGAGintronicDe novo--Trost2022 G
GRIK3     1-0319-004chr1:
37423200-37423200
GAintronicDe novo--Trost2022 G
GRIK3     GEA349chr1:
37325558-37325558
GCexonicDe novononsynonymous SNVNM_000831c.C847Gp.R283G22.6-Fu2022 E
GRIK3     MSSNG00375-003chr1:
37493715-37493715
CTintronicDe novo--Trost2022 G
GRIK3     MT_22.3chr1:
37389627-37389627
AGintronicDe novo--Trost2022 G
GRIK3     2-1283-003chr1:
37552356-37552356
TGintergenicDe novo--Yuen2017 G
GRIK3     4-0062-003chr1:
37388770-37388771
TGAAintronicDe novo--Trost2022 G
GRIK3     3-0044-000chr1:
37399232-37399232
CTintronicDe novo--Trost2022 G
GRIK3     1-1039-003chr1:
37390491-37390491
AGintronicDe novo--Trost2022 G
GRIK3     7-0171-003chr1:
37393619-37393619
CTintronicDe novo--Trost2022 G
Yuen2017 G
GRIK3     1-0206-003chr1:
37389127-37389127
GAintronicDe novo--Trost2022 G
Yuen2017 G
GRIK3     1-0736-003chr1:
37302014-37302014
GAintronicDe novo--Trost2022 G
Yuen2017 G
GRIK3     2-1244-003chr1:
37325203-37325203
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
GRIK3     1-0551-004chr1:
37407158-37407158
GCintronicDe novo--Trost2022 G
Yuen2017 G
GRIK3     AU3371302chr1:
37510466-37510466
CAintergenicDe novo--Yuen2017 G
GRIK3     2-1283-004chr1:
37552356-37552356
TGintergenicDe novo--Yuen2017 G
GRIK3     08C73777chr1:
37325491-37325491
TCexonicDe novononsynonymous SNVNM_000831c.A914Gp.Q305R16.59-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
GRIK3     11572.p1chr1:
37572953-37572953
GAintergenicDe novo--Turner2016 G
GRIK3     2-0305-004chr1:
37422911-37422911
TCintronicDe novo--Yuen2017 G
GRIK3     7-0059-003chr1:
37425869-37425869
ACintronicDe novo--Yuen2017 G
GRIK3     SP0036212chr1:
37282824-37282824
CAexonicDe novononsynonymous SNVNM_000831c.G1928Tp.W643L33.0-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
GRIK3     G01-GEA-34-HIchr1:
37282842-37282842
AGexonicDe novononsynonymous SNVNM_000831c.T1910Cp.I637T25.5-Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
Source Variant Information

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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
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