Variant Results

or

Results for "GRIN2A"

Variant Events: 48

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

GRIN2A

2-1408-003

chr16:
10094263-10094263

A

G

intronic

De novo

-

Yuen2017 G

GRIN2A

2-0278-003

chr16:
10384104-10384104

C

A

intergenic

De novo

-

Yuen2017 G

GRIN2A

AU4129303

chr16:
10447085-10447085

C

CAG

intergenic

De novo

-

Yuen2017 G

GRIN2A

12795.p1

chr16:
10414080-10414080

C

T

intergenic

De novo

-

Turner2016 G

GRIN2A

1-0025-006

chr16:
10391096-10391096

G

A

intergenic

De novo

-

Yuen2017 G

GRIN2A

1-0059-003

chr16:
10001135-10001135

T

C

intronic

De novo

-

Yuen2017 G

GRIN2A

1-0025-006

chr16:
9995103-9995103

C

T

intronic

De novo

-

Yuen2017 G

GRIN2A

AU034904

chr16:
10153216-10153216

T

C

intronic

De novo

-

Yuen2017 G

GRIN2A

1-0244-003

chr16:
9974800-9974800

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GRIN2A

1-0595-004

chr16:
9935745-9935745

G

T

intronic

De novo

-

Yuen2017 G

GRIN2A

AU051503

chr16:
10087271-10087271

A

G

intronic

De novo

-

Yuen2017 G

GRIN2A

Stessman2017:ASD-1651

chr16:
9934602-9934602

C

T

exonic

Unknown

nonsynonymous SNV

NM_001134407
NM_001134408
NM_000833

c.G1553A
c.G1553A
c.G1553A

p.R518H
p.R518H
p.R518H

32.0

-

Stessman2017 T

GRIN2A

AU051503

chr16:
10331473-10331473

C

T

intergenic

De novo

-

Yuen2017 G

GRIN2A

193182

chr16:
9862731-9862731

C

T

exonic

Unknown

nonsynonymous SNV

NM_001134407
NM_001134408
NM_000833

c.G2572A
c.G2572A
c.G2572A

p.G858R
p.G858R
p.G858R

22.8

-

Stessman2017 T

GRIN2A

D’Gama2015:5297

chr16:
9858751-9858751

C

T

exonic

Unknown

nonsynonymous SNV

NM_001134407
NM_001134408
NM_000833

c.G2650A
c.G2650A
c.G2650A

p.D884N
p.D884N
p.D884N

17.01

2.472E-5

D’Gama2015 T

GRIN2A

1-0125-003

chr16:
10316209-10316209

C

G

intergenic

De novo

-

Yuen2017 G

GRIN2A

AU3794301

chr16:
10167954-10167954

T

C

intronic

De novo

-

Yuen2017 G

GRIN2A

Krgovic2022:016906

chr16:
9892161-9892161

G

C

exonic

Unknown

nonsynonymous SNV

NM_001134407
NM_001134408
NM_000833

c.C2329G
c.C2329G
c.C2329G

p.L777V
p.L777V
p.L777V

14.25

-

Krgovic2022 E

GRIN2A

AU003403

chr16:
10347899-10347904

ACCCCC

ACCCC

intergenic

De novo

-

Yuen2017 G

GRIN2A

Krgovic2022:016906

chr16:
9857197-9857197

G

A

exonic

Unknown

nonsynonymous SNV

NM_001134407
NM_000833

c.C4204T
c.C4204T

p.R1402W
p.R1402W

16.69

-

Krgovic2022 E

GRIN2A

2-1350-003

chr16:
10371740-10371740

G

A

intergenic

De novo

-

Yuen2017 G

GRIN2A

Lee2020:34

chr16:
9858342-9858342

G

C

exonic

nonsynonymous SNV

NM_001134407
NM_001134408
NM_000833

c.C3059G
c.C3059G
c.C3059G

p.S1020C
p.S1020C
p.S1020C

17.83

-

Lee2020 T

GRIN2A

1-0224-004

chr16:
10086098-10086098

T

A

intronic

De novo

-

Yuen2017 G

GRIN2A

1-0965-003

chr16:
10180082-10180082

G

C

intronic

De novo

-

Yuen2017 G

GRIN2A

Krgovic2022:018325

chr16:
10031841-10031841

C

A

exonic

Unknown

stopgain

NM_001134407
NM_001134408
NM_000833

c.G982T
c.G982T
c.G982T

p.E328X
p.E328X
p.E328X

28.7

-

Krgovic2022 E

GRIN2A

AU3866301

chr16:
10096408-10096408

G

T

intronic

De novo

-

Yuen2017 G

GRIN2A

323894

chr16:
10273854-10273854

C

T

splicing

Inherited

splicing

18.1

-

Stessman2017 T

GRIN2A

AU056604

chr16:
9934267-9934267

C

T

intronic

De novo

-

Yuen2017 G

GRIN2A

1-0629-003

chr16:
10198521-10198521

C

T

intronic

De novo

-

Yuen2017 G

GRIN2A

2-1506-003

chr16:
10281781-10281781

G

C

intergenic

De novo

-

Yuen2017 G

GRIN2A

AU4410302

chr16:
9935333-9935333

G

C

intronic

De novo

-

Yuen2017 G

GRIN2A

AU4410302

chr16:
9993559-9993559

G

T

intronic

De novo

-

Yuen2017 G

GRIN2A

1-0454-003

chr16:
10272049-10272049

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GRIN2A

1-0259-003

chr16:
10018551-10018551

G

A

intronic

De novo

-

Yuen2017 G

GRIN2A

2-0704-003

chr16:
10476809-10476809

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GRIN2A

Yin2020:031

chr16:
10031919-10031919

C

A

exonic

nonsynonymous SNV

NM_001134407
NM_001134408
NM_000833

c.G904T
c.G904T
c.G904T

p.A302S
p.A302S
p.A302S

18.94

-

Yin2020 T

GRIN2A

AU028305

chr16:
10299587-10299587

G

A

intergenic

De novo

-

Yuen2017 G

GRIN2A

Yin2020:113

chr16:
10274241-10274241

G

T

exonic

nonsynonymous SNV

NM_001134407
NM_001134408
NM_000833

c.C28A
c.C28A
c.C28A

p.L10M
p.L10M
p.L10M

17.46

-

Yin2020 T

GRIN2A

217-14116-2080

Complex Event; expand row to view variants

Unknown

nonsynonymous SNV

NM_001134407
NM_000833
NM_001134407
NM_000833

c.C4354A
c.C4354A
c.C4354T
c.C4354T

p.R1452S
p.R1452S
p.R1452C
p.R1452C

20.7

1.652E-5

Stessman2017 T
Stessman2017 T

GRIN2A

AU065807

chr16:
9863252-9863252

C

T

intronic

De novo

-

Yuen2017 G

GRIN2A

AU4212303

chr16:
10246395-10246395

C

T

intronic

De novo

-

Yuen2017 G

GRIN2A

Yin2020:090

chr16:
10274241-10274241

G

T

exonic

nonsynonymous SNV

NM_001134407
NM_001134408
NM_000833

c.C28A
c.C28A
c.C28A

p.L10M
p.L10M
p.L10M

17.46

-

Yin2020 T

GRIN2A

M17580

chr16:
9943721-9943721

C

A

exonic

Unknown

nonsynonymous SNV

NM_001134407
NM_001134408
NM_000833

c.G1220T
c.G1220T
c.G1220T

p.S407I
p.S407I
p.S407I

28.4

-

Stessman2017 T

GRIN2A

1-0627-003

chr16:
10180589-10180589

T

G

intronic

De novo

-

Yuen2017 G

GRIN2A

1-0668-003

chr16:
9937034-9937034

T

C

intronic

De novo

-

Yuen2017 G

GRIN2A

AU3861302

chr16:
10102200-10102200

G

A

intronic

De novo

-

Yuen2017 G

GRIN2A

AU1542303

chr16:
10301259-10301259

G

A

intergenic

De novo

-

Yuen2017 G

GRIN2A

2-0171-003

chr16:
10222609-10222609

A

C

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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