Variant Results

or

Results for "GRIK5"

Variant Events: 15

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

GRIK5

AU220A

chr19:
42507510-42507510

T

C

exonic

De novo

nonsynonymous SNV

NM_001301030
NM_002088

c.A2488G
c.A2488G

p.T830A
p.T830A

15.79

-

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

GRIK5

5-0023-003

chr19:
42573393-42573393

G

A

intergenic

De novo

-

Trost2022 G

GRIK5

2-1207-003

chr19:
42565190-42565190

C

CTTTA

intronic

De novo

-

Yuen2016 G

GRIK5

REACH000209

chr19:
42552153-42552153

T

A

intronic

De novo

-

Trost2022 G

GRIK5

5-5083-003

chr19:
42537304-42537304

T

A

intronic

De novo

-

Trost2022 G

GRIK5

TRE_1435

chr19:
42507824-42507824

G

A

exonic

De novo

nonsynonymous SNV

NM_001301030
NM_002088

c.C2275T
c.C2275T

p.R759W
p.R759W

15.6

1.743E-5

Fu2022 E

GRIK5

SSC08289

chr19:
42546852-42546852

C

T

exonic

De novo

nonsynonymous SNV

NM_001301030
NM_002088

c.G1325A
c.G1325A

p.R442H
p.R442H

26.2

8.51E-6

Fu2022 E
Lim2017 E
Trost2022 G

GRIK5

14452.p1

chr19:
42546789-42546789

C

T

exonic

De novo

nonsynonymous SNV

NM_001301030
NM_002088

c.G1388A
c.G1388A

p.R463H
p.R463H

27.0

2.54E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

GRIK5

11301_p1

chr19:
42563657-42563657

C

A

exonic

De novo

synonymous SNV

NM_001301030
NM_002088

c.G531T
c.G531T

p.L177L
p.L177L

-

Fu2022 E

GRIK5

11301.p1

chr19:
42563657-42563657

C

A

exonic

De novo

synonymous SNV

NM_001301030
NM_002088

c.G531T
c.G531T

p.L177L
p.L177L

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

GRIK5

13628.p1

chr19:
42546852-42546852

C

T

exonic

De novo

nonsynonymous SNV

NM_001301030
NM_002088

c.G1325A
c.G1325A

p.R442H
p.R442H

26.2

8.51E-6

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

GRIK5

21758-34760

chr19:
42546718-42546718

C

T

exonic

nonsynonymous SNV

NM_001301030
NM_002088

c.G1459A
c.G1459A

p.E487K
p.E487K

36.0

-

Callaghan2019 G

GRIK5

928-19074

chr19:
42525615-42525615

T

C

exonic

Inherited

nonsynonymous SNV

NM_001301030
NM_002088

c.A1709G
c.A1709G

p.Y570C
p.Y570C

19.7

-

Callaghan2019 G

GRIK5

SSC11869

chr19:
42546789-42546789

C

T

exonic

De novo

nonsynonymous SNV

NM_001301030
NM_002088

c.G1388A
c.G1388A

p.R463H
p.R463H

27.0

2.54E-5

Lim2017 E
Trost2022 G

GRIK5

SP0053676

chr19:
42510004-42510004

C

T

exonic

De novo

nonsynonymous SNV

NM_001301030
NM_002088

c.G2134A
c.G2134A

p.V712I
p.V712I

33.0

9.094E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

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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