Variant Results

or

or

Results for "GRIK4"

Variant Events: 29

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

GRIK4

09C82563

chr11:
120690516-120690516

G

T

exonic

De novo

nonsynonymous SNV

NM_001282470
NM_001282473
NM_014619

c.G398T
c.G398T
c.G398T

p.R133I
p.R133I
p.R133I

28.0

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

GRIK4

AU3918302

chr11:
120772419-120772419

G

A

intronic

De novo

-

-

Yuen2017 G

GRIK4

AU060004

chr11:
120420210-120420210

C

T

intronic

De novo

-

-

Yuen2017 G

GRIK4

1-0261-004

chr11:
120478010-120478010

C

T

intronic

De novo

-

-

Yuen2017 G

GRIK4

AU3721302

chr11:
120734048-120734048

G

A

intronic

De novo

-

-

Yuen2017 G

GRIK4

A25

chr11:
120390893-120390893

C

T

intronic

De novo

-

-

Wu2018 G

GRIK4

1-0531-003

chr11:
120622748-120622748

C

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

GRIK4

AU2951302

chr11:
120449621-120449621

C

T

intronic

De novo

-

-

Yuen2017 G

GRIK4

13649.p1

chr11:
120658896-120658896

A

G

intronic

De novo

-

-

Turner2016 G

GRIK4

1-0051-004

chr11:
120872269-120872269

T

TCAA

intergenic

De novo

-

-

Yuen2017 G

GRIK4

14637.p1

chr11:
120699626-120699626

G

A

intronic

De novo

-

-

Turner2016 G

GRIK4

2-1430-003

chr11:
120562853-120562853

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

GRIK4

2-1402-003

chr11:
120495291-120495291

C

T

intronic

De novo

-

-

Yuen2017 G

GRIK4

5-0131-003

chr11:
120715924-120715924

G

C

intronic

De novo

-

-

Yuen2017 G

GRIK4

AU2777302

chr11:
120738545-120738545

C

T

intronic

De novo

-

-

Yuen2017 G

GRIK4

AU075703

chr11:
120579120-120579120

C

T

intronic

De novo

-

-

Yuen2017 G

GRIK4

AU046707

chr11:
120680172-120680172

C

T

intronic

De novo

-

-

Yuen2017 G

GRIK4

iHART3297

chr11:
120702650-120702651

AC

A

exonic

Paternal

frameshift deletion

NM_001282470
NM_001282473
NM_014619

c.602delC
c.602delC
c.602delC

p.T201fs
p.T201fs
p.T201fs

-

-

Ruzzo2019 G

GRIK4

2-0319-004

chr11:
120433928-120433928

G

T

intronic

De novo

-

-

Yuen2017 G

GRIK4

7-0219-003

chr11:
120435614-120435614

G

A

intronic

De novo

-

-

Yuen2017 G

GRIK4

13825.p1

chr11:
120674783-120674783

T

C

intronic

De novo

-

-

Wilfert2021 G

GRIK4

7-0032-003

chr11:
120788498-120788498

T

C

intronic

De novo

-

-

Yuen2017 G

GRIK4

1-0466-003

chr11:
120717962-120717962

A

G

intronic

De novo

-

-

Yuen2017 G

GRIK4

AU3728301

chr11:
120491942-120491942

T

G

intronic

De novo

-

-

Yuen2017 G

GRIK4

5-0103-003

chr11:
120414524-120414524

A

G

intronic

De novo

-

-

Yuen2017 G

GRIK4

AU2951303

chr11:
120449621-120449621

C

T

intronic

De novo

-

-

Yuen2017 G

GRIK4

2-1477-003

chr11:
120662944-120662976

CGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTGT

CGTGTGTGTGTGTGTGCGTGTGTGTGTGTGT

intronic

De novo

-

-

Yuen2017 G

GRIK4

1-0590-003

chr11:
120508586-120508606

TTTATTATTATTATTATTATT

TTTATTATTATTATTATT

intronic

De novo

-

-

Yuen2017 G

GRIK4

2-1252-003

chr11:
120444344-120444344

C

T

intronic

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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