Variant Results

or

Results for "GRIK1"

Variant Events: 60

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

GRIK1

2-1452-003

chr21:
31366623-31366623

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GRIK1

5-0116-003

chr21:
31463061-31463061

C

T

intergenic

De novo

-

Yuen2017 G

GRIK1

AU3874303

chr21:
31378255-31378255

A

G

intergenic

De novo

-

Yuen2017 G

GRIK1

AU0146302

chr21:
31280089-31280089

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIK1

AU4308302

chr21:
31186817-31186817

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIK1

1-0595-004

chr21:
31191506-31191506

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIK1

SJD_10.3

chr21:
31056700-31056700

A

C

intronic

De novo

-

Trost2022 G

GRIK1

63-343

chr21:
31325473-31325473

G

A

intergenic

De novo

-

Michaelson2012 G

GRIK1

1-0263-003

chr21:
31436591-31436591

G

A

intergenic

De novo

-

Yuen2016 G

GRIK1

3-0607-000

chr21:
30925678-30925678

C

CA

intronic

De novo

-

Trost2022 G

GRIK1

MSSNG00388-003

chr21:
30912325-30912325

T

C

intronic

De novo

-

Trost2022 G

GRIK1

MSSNG00025-003

chr21:
30910221-30910221

G

GA

intronic

De novo

-

0.0025

Trost2022 G

GRIK1

AU3792302

chr21:
31194756-31194756

T

C

intronic

De novo

-

Trost2022 G

GRIK1

1-0465-003A

chr21:
31160097-31160104

GGAACATT

C

intronic

De novo

-

Trost2022 G

GRIK1

3-0659-000

chr21:
31138390-31138390

G

A

intronic

De novo

-

Trost2022 G

GRIK1

2-1511-003

chr21:
31115381-31115381

C

T

intronic

De novo

-

Trost2022 G

GRIK1

5-5023-003

chr21:
31083773-31083773

G

A

intronic

De novo

-

Trost2022 G

GRIK1

1034

chr21:
31079515-31079515

A

G

intronic

De novo

-

Trost2022 G

GRIK1

1-0559-005

chr21:
31424002-31424002

G

A

intergenic

De novo

-

Yuen2017 G

GRIK1

1-0903-003

chr21:
31063409-31063409

C

G

intronic

De novo

-

Trost2022 G

GRIK1

2-1360-003

chr21:
30767189-30767189

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GRIK1

5-0133-003

chr21:
31285447-31285459

CACCTGTGTTGCC

GA

intronic

De novo

-

Trost2022 G

GRIK1

5-0133-003

chr21:
31285431-31285442

GAATTCCAGTCC

G

intronic

De novo

-

Trost2022 G

GRIK1

AU3371303

chr21:
31261224-31261225

GT

G

intronic

De novo

-

Trost2022 G

GRIK1

2-1360-003

chr21:
30904194-30904194

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GRIK1

7-0178-003

chr21:
31233173-31233173

G

C

intronic

De novo

-

Trost2022 G

GRIK1

3-0873-000

chr21:
31212344-31212344

G

A

intronic

De novo

-

Trost2022 G

GRIK1

mAGRE5425

chr21:
30959724-30959729

GGCTAA

G

exonic

Maternal

frameshift deletion

NM_175611
NM_000830

c.1705_1709del
c.1750_1754del

p.L569fs
p.L584fs

-

8.252E-6

Cirnigliaro2023 G

GRIK1

5-0077-004

chr21:
31260478-31260478

T

TC

intronic

De novo

-

Yuen2017 G

GRIK1

AU4093302

chr21:
31114129-31114129

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIK1

AU3057301

chr21:
31327098-31327098

A

T

intergenic

De novo

-

Yuen2017 G

GRIK1

1-0201-004

chr21:
30961291-30961291

G

T

exonic

De novo

stopgain

NM_175611
NM_000830

c.C1392A
c.C1437A

p.C464X
p.C479X

34.0

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

GRIK1

2-1477-003

chr21:
31476738-31476738

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GRIK1

2-0273-003

chr21:
31381803-31381803

G

C

intergenic

De novo

-

Yuen2017 G

GRIK1

2-0296-003

chr21:
31073213-31073216

AAAC

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIK1

5-0099-003

chr21:
30826014-30826014

T

C

intergenic

De novo

-

Yuen2017 G

GRIK1

AU3730301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

GRIK1

5-0055-003

chr21:
31104322-31104322

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIK1

1-0155-003

chr21:
31282629-31282629

T

C

intronic

De novo

-

Yuen2017 G

GRIK1

2-1128-003

chr21:
31338596-31338596

G

A

intergenic

De novo

-

Yuen2017 G

GRIK1

AU3964302

chr21:
31464593-31464593

T

G

intergenic

De novo

-

Yuen2017 G

GRIK1

5-0054-003

chr21:
30804685-30804685

T

C

intergenic

De novo

-

Yuen2017 G

GRIK1

5-0111-003

chr21:
31158547-31158547

G

A

intronic

De novo

-

Yuen2017 G

GRIK1

A29

chr21:
30875941-30875941

A

G

intergenic

De novo

-

Wu2018 G

GRIK1

AU3984302

chr21:
31224101-31224101

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIK1

2-1194-003

chr21:
31422472-31422472

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GRIK1

1-0248-003

chr21:
31380420-31380420

T

C

intergenic

De novo

-

Yuen2017 G

GRIK1

2-1291-003

chr21:
30807216-30807216

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GRIK1

08C78065

chr21:
30949318-30949318

G

A

exonic

De novo

nonsynonymous SNV

NM_175611
NM_000830

c.C2051T
c.C2096T

p.A684V
p.A699V

19.4

1.648E-5

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

GRIK1

7-0160-003

chr21:
31177099-31177099

A

T

intronic

De novo

-

Yuen2017 G

GRIK1

7-0191-003

chr21:
30795401-30795401

C

T

intergenic

De novo

-

Yuen2017 G

GRIK1

5-0050-003

chr21:
30922165-30922165

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIK1

SP0032572

chr21:
30910176-30910176

A

G

intronic

De novo

-

Fu2022 E
Zhou2022 GE

GRIK1

AU2139303

chr21:
31312882-31312882

A

G

upstream

De novo

-

Trost2022 G
Yuen2017 G

GRIK1

2-0319-004

chr21:
31311702-31311702

G

A

exonic

De novo

synonymous SNV

NM_000830
NM_175611

c.C117T
c.C117T

p.I39I
p.I39I

-

Yuen2015 G
Yuen2017 G
Zhou2022 GE

GRIK1

1-0497-003

chr21:
31046977-31046991

GCTCTCTCTCTCTCT

GCTCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

GRIK1

2-1205-003

chr21:
30932646-30932649

TTCT

TT

intronic

De novo

-

Yuen2017 G

GRIK1

AU048206

chr21:
30769453-30769453

A

G

intergenic

De novo

-

Yuen2017 G

GRIK1

AU1940304

chr21:
31065258-31065258

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRIK1

2-1295-003

chr21:
31350161-31350161

C

T

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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